DOCSLIB.ORG

CMJ a Female Infant Case with Tetrasomy 18P Bir Dişi

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
CMJ a Female Infant Case with Tetrasomy 18P Bir Dişi CMJ Case Report December 2015, Volume: 37, Number: 4 Cumhuriyet Medical Journal 283-286 http://dx.doi.org/10.7197/cmj.v37i4.5000117147 A female infant case with tetrasomy 18p Bir dişi infant tetrazomi 18p olgusu *Malik Ejder Yıldırım1, Hande Küçük Kurtulgan1, Leyla Özer2, Savaş Karakuş3, İlhan Sezgin1 1Department of Medical Genetics, Cumhuriyet University School of Medicine, Sivas, Turkey 2Mikrogen Genetic Diagnosis Center, Ankara, Turkey 3Department of Obstetrics and Gynecology, Cumhuriyet University School of Medicine, Sivas, Turkey Corresponding author: Dr. Malik Ejder Yıldırım, Tıbbi Genetik Anabilim Dalı, Cumhuriyet Üniversitesi Tıp Fakültesi, TR 58140 Sivas, Türkiye E-mail: [email protected] Received/Accepted: May 05, 2015/November 09, 2015 Conflict of interest: There is not a conflict of interest. SUMMARY Tetrasomy 18p is a rare chromosomal anomaly that can affect different systems. It is caused by an abnormal extra chromosome, called isochromosome 18p. This condition usually causes growth retardation, intellectual disability, abnormalities in muscle tone, and specific facial features. A dysmorphic female child with microcephaly and mental-motor retardation was referred to our department. After physical examination, we researched the problem of this patient using conventional cytogenetic procedure. Her karyotype was 47, XX, +mar. In order to determine the origin of marker chromosome, we performed fluorescence in situ hybridization (FISH) method on metaphase cells. Tetrasomy 18p was detected in this patient. Her signs and symptoms were consistent with this disorder. Keywords: Tetrasomy 18, isochromosome 18p, marker chromosome ÖZET Tetrazomi 18p farklı sistemleri etkileyen seyrek bir kromozom anomalisidir. İzokromozom 18p denilen anormal ekstra bir kromozom nedeniyle oluşur. Bu rahatsızlık genellikle gelişme geriliği, entelektüel bozukluk, kas tonusu anomalileri ve spesifik fasiyal bulgulara neden olur. Mikrosefali ve mental-motor retardasyonu olan dismorfik bir kız çocuğu bölümümüze sevk edildi. Fizik muayene sonrası konvansiyonel sitogenetik yöntemle hastanın problemini araştırdık. Karyotipi 47, XX, +mar olarak tespit edildi. Marker kromozomun orijinini belirlemek için metafaz hücrelerine FISH çalışması yaptık. Hastada tetrazomi 18p tespit edildi. Hastamızın bulgu ve semptomları bu hastalıkla uyumluydu. Anahtar sözcükler: Tetrazomi 18, izokromozom 18p, marker kromozom weight, growth retardation, hypotonia or INTRODUCTION hypertonia and some dysmorphic features Tetrasomy 18p is a chromosome anomaly like low-set ears, small mouth, microgna- results from an isochromosome consisted thia, high palate, strabismus, scoliosis or of two copies of the short arm of chromo- kyphosis etc.3, 4. Additional features of some 18. In the most of cases, the iso- tetrasomy 18p may implicate seizures, chromosome is de novo. The patients have vision problems, hearing loss, recurrent ear no family history concerning this disease. infections, gastrointestinal and urogenital Tetrasomy 18p was reported by Froland et problems (cryptorchidism, hypospadias) al.1 firstly in 1963. It is a rare chromoso- and heart defects3. Babies with tetrasomy mal disorder2. The prevalance of this 18p also have feeding difficulties. Some anomaly is 1/140.000 and the disease af- patients have spinal deformity like scolio- fects males and females equally1, 2. Tetra- sis or kyphosis and different psychiatric somy 18p syndrome is characterised by conditions, such as attention deficit hyper- mental retardation, microcephaly, low birth activity disorder and anxiety may be. CMJ Cumhuriyet Medical Journal 284 Source of this phenotype and symptoms is a small marker chromosome, isochromo- some 18p5. Tetrasomy 18 is an anomaly rarely seen in the world but clinical signs may be important. So, we report a child with tetrasomy 18p from Sivas, Turkey. CASE REPORT A nine months old female was referred to our genetic department because of her dysmorphic signs. She was premature and she had a story of intrauterin growth retar- Figure 1: Karyotype of our patient, includ- dation. Her father was 29 and her mother ing a supernumerary markerchromosome was 28 years old and there was no consan- (47, XX, +mar). guinity. She had 46cm height, 2260 gr weight and 30 cm head circumference at birth. In the last measurement, this values were 63 cm, 6850 gr and 40 cm respective- ly (all of the values were under the third percentile). She was microcephalic and her mental and motor development were de- layed. Controlling of the head was possible at six months of age, and sitting unsup- ported at eight months. Her facial symp- toms were hypertelorism, broad based nose, high palate, upslanted palpebral fis- sure, low-set ears and strabismus. She was hypotonic and she had a sacral dimple. Figure 2: The metaphase image of the same patient. There were bilateral Sydney lines in her palms. Her heartbeats were bradycardic. A DISCUSSION moderate mitral regurgitation was deter- mined with echocardiography. Abdominal In order to access accurate diagnosis of a and urinary USG of this patient were nor- genetic condition, researchers need to sub- mal. TFUSG was performed and several stantiate with molecular methods. m-FISH cysts were observed in both choroid plex- is an important procedure to determine the us. There was no any abnormal finding in origin of the chromosomal fragment in the EEG. In this patient, 47, XX, +mar karyo- marker i.e., tetrasomy of 18p6. Tetrasomy type was detected in conventional cytoge- 18p is a rare chromosomal abnormality netic analysis. In order to determine the that occurs due to isochromosome 18p origin of marker chromosome, fluores- which is supernumerary marker chromo- cence in situ hybridization (FISH) analysis some consists of two copies of the short was performed. Tetrasomy of chromosome arm of chromosome 18. An isochromo- 18p was determined by FISH method ap- some with the normal chromosome pair plied to metaphase cells from peripheric leads to a tetrasomy of the arm for a chro- blood. Marker chromosome was isochro- mosome7. Cases of Tetrasomy 18p may mosome 18p (subtelomeric region of the have variable phenotypic characteristics. short arm). Test reliability was estimated The cause of different phenotypic features 95%. Parental karyotype analysen were may be chromosomal origin, euchromatin normal. content, mosaicism, parental origin and genomic imprinting8. Callen et al.9 sug- gested that parental age might be advanced in the isochromosome 18p syndrome. In a study by Hook and Cross, mean maternal age of mutant cases was 37.5 + 2.9, a bit greater than the controls10. Ages of our CMJ Cumhuriyet Medical Journal 285 patient’s parent did not support these data. lecular and clinical findings of 43 Her father was 29 and her mother was 28 individuals. Am J of Med Gen A years old. Most of the I (18p) cases are 2010; 152: 2164-72. sporadic, de novo meiotic events11. How- 4. Nucaro A, Chillotti I, Pisano T, ever, familial and somatic mosaic cases Pruna D, and Cianchetti C. Pro- have also been reported12. Takeda et al.13 gressive Spastic Paraplegia as a reported a family with an 18p trisomic Feature of Tetrasomy 18p. Am J of mother and two 18p tetrasomic daughters. Med Gen 2010; 152: 2173-5. The mother is phenotypically normal and 5. Schwemmle C, Arslan-Kirchner healthy but the older sister has dysmorphic M, Pabst B, Ptok M. Tetrasomy features and mental retardation and the 18p syndrome and hearing loss. younger sister was stillborn with extensive An unusual case. HNO 2012; 60: defects. Mosaic tetrasomy 18p cases in the 901-5, literature are rare3. Mental retardation is 6. Bakshi SR1, Brahmbhatt MM, the most common clinical sign of tetra- Trivedi PJ, Chudoba I. Constitu- somy 18p (100%). The rate of microceph- tional tetrasomy 18p. Indian Pedi- aly is 74% and heart defects is 24%14. The atr 2006; 43: 357-60. features of our patient were consistent with 7. Plaiasu V, Ochiana D, Motei G, the literature (mental retardation, micro- Georgescu A. A Rare Chromoso- cephaly, low set ears, high palate, growth mal Disorder-Isochromosome 18p retardation, heart defect). An interesting Syndrome Maedica (Buchar) symptom in this patient was sydney line. 2011; 6: 132-6. This hand marker may also be in Down’s 8. Pietrzak J, Mrasek K, Obersztyn E, syndrome, childhood leukemia, congenital Stankiewicz P, Kosyakova N, rubella, Alzheimer, Fragile X-syndrome, Weise A. Molecular cytogenetic Marfan syndrome, Rubinstein-Taybi syn- characterization of eight small su- drome and achondroplasia. The exact iden- pernumerary marker chromosomes tification of the supernumerary marker originating from chromosomes 2, chromosome may provide important diag- 4, 8, 18, and 21 in three patients. J. nostic and prognostic information. Micro- Appl. Genet 2007; 48: 167-75. dissection libraries for FISH may contrib- 9. Callen DF, Freemantle CJ, ute to specific diagnostic approachs for Ringenbergs ML, Baker E, Eyre marker chromosomes15. In conclusion, we HJ, Romain D, Haan EA. The Iso- report a rare chrosomal anomaly, tetra- chromosome 18p Syndrome: Con- somy 18p in a nine months old female firmation of Cytogenetic Diagno- child from Sivas, Turkey. She needs spe- sis in Nine Cases by In Situ Hy- cific treatment and rehabilitation. bridization. Am. J. Hum. Genet 1990; 47: 493-8. REFERENCES 10. Hook EB, Cross PK. Extra Struc- 1. Jung PS, Won HS, Cho IJ, Hyun turally Abnormal Chromosomes MK, Shim JY, Lee PR, Kim A. A (ESAC) Detected at Amniocen- case report of prenatally diagnosed tesis: Frequency in Approximately tetrasomy 18p. Obstet Gynecol Sci 75,000 Prenatal Cytogenetic Diag- 2013; 56: 190-3. noses and Associations with Ma- 2. Brambila Tapia AJ, Figuera L, ternal and Paternal Age Am. J. Vázquez Cárdenas NA, Ramírez Hum. Genet 1987; 40: 83-101. Torres V, Vázquez Velázquez AI, 11. Ramegowda S, Gawde HM, Hy- García Contreras C, Ramírez Due- deri A, Savitha MR, Patel ZM, ñas ML. The variable phenotype in Krishnamurthy B, Ramachandra tetrasomy 18p syndrome. A propos NB. De novo isochromosome 18p of a subtle dysmorphic case. Genet in a female dysmorphic child J Couns 2010; 21: 277-83. Appl Genet 2006; 47: 397-401. 3. Sebold C, Roeder E, Zimmerman 12.
Load more

Recommended publications
  • Association of Congenital Diaphragmatic Hernia and Hiatal Hernia with Tetrasomy 18P
    Accepted Manuscript Association of Congenital Diaphragmatic Hernia and Hiatal Hernia with Tetrasomy 18p Jamir Arlikar , MD Victor McKay , MD Paul Danielson , MD PII: S2213-5766(14)00068-2 DOI: 10.1016/j.epsc.2014.05.006 Reference: EPSC 221 To appear in: Journal of Pediatric Surgery Case Reports Received Date: 25 March 2014 Revised Date: 7 May 2014 Accepted Date: 17 May 2014 Please cite this article as: Arlikar J, McKay V, Danielson P, Association of Congenital Diaphragmatic Hernia and Hiatal Hernia with Tetrasomy 18p, Journal of Pediatric Surgery Case Reports (2014), doi: 10.1016/j.epsc.2014.05.006. This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. ACCEPTED MANUSCRIPT ASSOCIATION OF CONGENITAL DIAPHRAGMATIC HERNIA AND HIATAL HERNIA WITH TETRASOMY 18P Running title: “CDH and Hiatal Hernia with Tetrasomy 18p” Jamir Arlikar, MD*, Victor McKay, MD**, and Paul Danielson, MD* Division of Pediatric Surgery* and Division of Neonatology** All Children’s Hospital Johns Hopkins Medicine St. Petersburg, FL MANUSCRIPT Corresponding Author: Paul Danielson, MD All Children’s Hospital Johns Hopkins Medicine 601 Fifth Street South, Dept 70-6600 St. Petersburg, FL 33701 ACCEPTED Tel: 727-767-4109 Fax: 727-767-4346 Email: [email protected] 1 ACCEPTED MANUSCRIPT Abstract: We report a case of a newborn with tetrasomy 18p who presents with both a congenital diaphragmatic hernia and a giant hiatal hernia.
    [Show full text]
  • Chromosome 18
    Chromosome 18 Description Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. Chromosome 18 spans about 78 million DNA building blocks (base pairs) and represents approximately 2.5 percent of the total DNA in cells. Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 18 likely contains 200 to 300 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body. Health Conditions Related to Chromosomal Changes The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 18. Distal 18q deletion syndrome Distal 18q deletion syndrome occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "distal" means that the missing piece (deletion) occurs near one end of the chromosome arm. The signs and symptoms of distal 18q deletion syndrome include delayed development and learning disabilities, short stature, weak muscle tone ( hypotonia), foot abnormalities, and a wide variety of other features. The deletion that causes distal 18q deletion syndrome can occur anywhere between a region called 18q21 and the end of the chromosome. The size of the deletion varies among affected individuals. The signs and symptoms of distal 18q deletion syndrome are thought to be related to the loss of multiple genes from this part of the long arm of chromosome 18.
    [Show full text]
  • First Case Report of Maternal Mosaic Tetrasomy 9P Incidentally Detected on Non-Invasive Prenatal Testing
    G C A T T A C G G C A T genes Article First Case Report of Maternal Mosaic Tetrasomy 9p Incidentally Detected on Non-Invasive Prenatal Testing Wendy Shu 1,*, Shirley S. W. Cheng 2 , Shuwen Xue 3, Lin Wai Chan 1, Sung Inda Soong 4, Anita Sik Yau Kan 5 , Sunny Wai Hung Cheung 6 and Kwong Wai Choy 3,* 1 Department of Obstetrics and Gynaecology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong, China; [email protected] 2 Clinical Genetic Service, Hong Hong Children Hospital, Ngau Tau Kok, Hong Kong, China; [email protected] 3 Department of Obstetrics and Gynaecology, Chinese University of Hong Kong, Hong Kong, China; [email protected] 4 Department of Clinical Oncology, Pamela Youde Nethersole Eastern Hospital, Chai Wan, Hong Kong, China; [email protected] 5 Prenatal Diagnostic Laboratory, Tsan Yuk Hospital, Sai Ying Pun, Hong Kong, China; [email protected] 6 NIPT Department, NGS Lab, Xcelom Limited, Hong Kong, China; [email protected] * Correspondence: [email protected] (W.S.); [email protected] (K.W.C.); Tel.: +852-25-957-359 (W.S.); +852-35-053-099 (K.W.C.) Abstract: Tetrasomy 9p (ORPHA:3390) is a rare syndrome, hallmarked by growth retardation; psychomotor delay; mild to moderate intellectual disability; and a spectrum of skeletal, cardiac, renal and urogenital defects. Here we present a Chinese female with good past health who conceived her pregnancy naturally. Non-invasive prenatal testing (NIPT) showed multiple chromosomal aberrations were consistently detected in two sampling times, which included elevation in DNA from Citation: Shu, W.; Cheng, S.S.W.; chromosome 9p.
    [Show full text]
  • Aneuploidy and Aneusomy of Chromosome 7 Detected by Fluorescence in Situ Hybridization Are Markers of Poor Prognosis in Prostate Cancer'
    [CANCERRESEARCH54,3998-4002,August1, 19941 Advances in Brief Aneuploidy and Aneusomy of Chromosome 7 Detected by Fluorescence in Situ Hybridization Are Markers of Poor Prognosis in Prostate Cancer' Antonio Alcaraz, Satoru Takahashi, James A. Brown, John F. Herath, Erik J- Bergstralh, Jeffrey J. Larson-Keller, Michael M Lieber, and Robert B. Jenkins2 Depart,nent of Urology [A. A., S. T., J. A. B., M. M. U, Laboratory Medicine and Pathology (J. F. H., R. B. fl, and Section of Biostatistics (E. J. B., J. J. L-JCJ, Mayo Clinic and Foundation@ Rochester, Minnesota 55905 Abstract studies on prostate carcinoma samples. Interphase cytogenetic analy sis using FISH to enumerate chromosomes has the potential to over Fluorescence in situ hybridization is a new methodologj@which can be come many of the difficulties associated with traditional cytogenetic used to detect cytogenetic anomalies within interphase tumor cells. We studies. Previous studies from this institution have demonstrated that used this technique to identify nonrandom numeric chromosomal alter ations in tumor specimens from the poorest prognosis patients with path FISH analysis with chromosome enumeration probes is more sensitive ological stages T2N@M,Jand T3NOMOprostate carcinomas. Among 1368 than FCM for detecting aneuploid prostate cancers (4, 5, 7). patients treated by radical prostatectomy, 25 study patients were ascer We designed a case-control study to test the hypothesis that spe tamed who died most quickly from progressive prostate carcinoma within cific, nonrandom cytogenetic changes are present in tumors removed 3 years of diagnosis and surgery. Tumors from 25 control patients who from patients with prostate carcinomas with poorest prognoses .
    [Show full text]
  • General Contribution
    24 Abstracts of 37th Annual Meeting A1 A SCREENING METHOD FOR FRAGILE X MUTATION: DETECTION OF THE CGG REPEAT IN FMR-1 GENE BY PCR WITH BIOTIN-LABELED PRIMER. ..Eiji NANBA, Kousaku OHNO and Kenzo TAKESHITA Division of Child Neurology, Institute of Neurological Sciences, Tot- tori University School of Medicine. Yonago We have developed a new polymerase chain reaction(PCR)-based method for detection of the CGG repeat in FMR-1 gene. No specific product from PCR was detected on the gel with ethidium bromide staining, because 7-deaza-2'-dGTP is necessary for amplification of this repeat. Biotin-labeled primer was used for PCR and the product was transferred to a nylon membrane followed the detection of biotin by Smilight kit. The size of PCR product from normal control were slightly various and around 300bp. No PCR product was detected from 3 fragile X male patients in 2 families diagnosed by cytogenetic examination. This method is useful for genetic screen- ing of male mental retardation patients to exclude the fragile X mutation. A2 DNA ANALYSISFOR FRAGILE X SYNDROME Osamu KOSUDA,Utak00GASA, ~.ideynki INH, a~ji K/NAGIJCltI, and Kazumasa ]tIKIJI (SILL Inc., Tokyo) Fragile X syndrome is X-linked disease having the amplification of (CG6)n repeat sequence in the chromsomeXq27.3. We performed Southern blot analysis using three probes recognized repetitive sequence resion. Normal controle showed 5.2Kb with Eco RI digest and 2.7Kb with Eco RI/Bss ttII digest as the germ tines by the Southern blot analysis. However, three cell lines established fro~ unrelated the patients with fragile X showed the abnormal bands between 5.2 and 7.7Kb with Eco RI digest, and between 2.7 and 7.7Kb with Eco aI/Bss HII digest.
    [Show full text]
  • Tetrasomy 9P Syndrome in a Filipino Infant
    CASE REPORT Tetrasomy 9p Syndrome in a Filipino Infant Ebner Bon G. Maceda,1,2 Erena S. Kasahara,3 Edsel Allan G. Salonga,2 Myrian R. Dela Cruz2 and Leniza De Castro-Hamoy1,2 1Division of Clinical Genetics, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila 2Institute of Human Genetics, National Institutes of Health, University of the Philippines Manila 3Division of Newborn Medicine, Department of Pediatrics, College of Medicine and Philippine General Hospital, University of the Philippines Manila ABSTRACT Tetrasomy 9p syndrome is a rare chromosomal abnormality syndrome whose most common features include hypertelorism, malformed ears, bulbous nose and microretrognathia. These features present as a result of an additional two copies of the short arm of chromosome 9. Here we present a neonate with characteristic facial features of hypertelorism, downslanted palpebral fissure, bulbous nose, small cupped ears, cleft lip and palate, and downturned corners of the mouth. Clinical features were consistent with the cytogenetic analysis of tetrasomy 9p. In general, clinicians are not as familiar with the features of tetrasomy 9p syndrome as that of more common chromosomal abnormalities like trisomies 13, 18, and 21. Hence, this case re-emphasizes the importance of doing the standard karyotyping for patients presenting with multiple congenital anomalies. Also, this is the first reported case of Tetrasomy 9p syndrome in Filipinos. Key Words: Tetrasomy 9p, isochromosome, hypertelorism, bulbous nose INTRODUCTION Tetrasomy 9p is a broad term used to describe the presence of a supernumerary chromosome of the short arm of chromosome 9. In more specific terms, the presence of 2 extra copies of 9p arms can be either isodicentric or pseudodicentric.
    [Show full text]
  • Cytogenetics, Chromosomal Genetics
    Cytogenetics Chromosomal Genetics Sophie Dahoun Service de Génétique Médicale, HUG Geneva, Switzerland [email protected] Training Course in Sexual and Reproductive Health Research Geneva 2010 Cytogenetics is the branch of genetics that correlates the structure, number, and behaviour of chromosomes with heredity and diseases Conventional cytogenetics Molecular cytogenetics Molecular Biology I. Karyotype Definition Chromosomal Banding Resolution limits Nomenclature The metaphasic chromosome telomeres p arm q arm G-banded Human Karyotype Tjio & Levan 1956 Karyotype: The characterization of the chromosomal complement of an individual's cell, including number, form, and size of the chromosomes. A photomicrograph of chromosomes arranged according to a standard classification. A chromosome banding pattern is comprised of alternating light and dark stripes, or bands, that appear along its length after being stained with a dye. A unique banding pattern is used to identify each chromosome Chromosome banding techniques and staining Giemsa has become the most commonly used stain in cytogenetic analysis. Most G-banding techniques require pretreating the chromosomes with a proteolytic enzyme such as trypsin. G- banding preferentially stains the regions of DNA that are rich in adenine and thymine. R-banding involves pretreating cells with a hot salt solution that denatures DNA that is rich in adenine and thymine. The chromosomes are then stained with Giemsa. C-banding stains areas of heterochromatin, which are tightly packed and contain
    [Show full text]
  • Prenatal Diagnosis of Mosaic Tetrasomy 18P in a Case Without Sonographic Abnormalities
    IJMCM Case Report Winter 2017, Vol 6, No 1 Prenatal Diagnosis of Mosaic Tetrasomy 18p in a Case without Sonographic Abnormalities Javad Karimzad Hagh1, Thomas Liehr2, Hamid Ghaedi3, Mir Majid Mossalaeie1, Shohreh Alimohammadi4, Faegheh Inanloo Hajiloo1, Zahra Moeini1, Sadaf Sarabi1, Davood Zare-Abdollahi5 1. Parseh Pathobiology & Genetics Laboratory, Tehran, Iran. 2. Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany, Iran. 3. Department of medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 4. Endometrium and Endometriosis Research Center, Faculty of Medicine, Hamedan University of Medical Sciences, Hamedan, Iran. 5. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Submmited 15 August 2016; Accepted 22 October 2016; Published 17 January 2017 Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they cannot be identified or characterized unambiguously by conventional cytogenetics alone. On the other hand, and perhaps more importantly in prenatal settings, there is a challenging situation for counseling how to predict the risk for an abnormal phenotype, especially in cases with a de novo sSMC. Here we report on the prenatal diagnosis of a mosaic tetrasomy 18p due to presence of an sSMC in a fetus without abnormal sonographic signs. For a 26-year-old, gravida 2 (para 1) amniocentesis was done due to consanguineous marriage and concern for Down syndrome, based on borderline risk assessment. Parental karyotypes were normal, indicating a de novo chromosome aberration of the fetus. FISH analysis as well as molecular karyotyping identified the sSMC as an i(18)(pter->q10:q10->pter), compatible with tetrasomy for the mentioned region.
    [Show full text]
  • Congenital Heart Disease and Chromossomopathies Detected By
    Review Article DOI: 10.1590/0103-0582201432213213 Congenital heart disease and chromossomopathies detected by the karyotype Cardiopatias congênitas e cromossomopatias detectadas por meio do cariótipo Cardiopatías congénitas y anomalías cromosómicas detectadas mediante cariotipo Patrícia Trevisan1, Rafael Fabiano M. Rosa2, Dayane Bohn Koshiyama1, Tatiana Diehl Zen1, Giorgio Adriano Paskulin1, Paulo Ricardo G. Zen1 ABSTRACT Conclusions: Despite all the progress made in recent de- cades in the field of cytogenetic, the karyotype remains an es- Objective: To review the relationship between congenital sential tool in order to evaluate patients with congenital heart heart defects and chromosomal abnormalities detected by disease. The detailed dysmorphological physical examination the karyotype. is of great importance to indicate the need of a karyotype. Data sources: Scientific articles were searched in MED- LINE database, using the descriptors “karyotype” OR Key-words: heart defects, congenital; karyotype; Down “chromosomal” OR “chromosome” AND “heart defects, syndrome; trisomy; chromosome aberrations. congenital”. The research was limited to articles published in English from 1980 on. RESUMO Data synthesis: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood Objetivo: Realizar uma revisão da literatura sobre a group of lesions. Several researchers have evaluated the pres- relação das cardiopatias congênitas com anormalidades ence of chromosomal abnormalities detected by the karyo- cromossômicas detectadas por meio do exame de cariótipo. type in patients with congenital heart disease. However, Fontes de dados: Pesquisaram-se artigos científicos no most of the articles were retrospective studies developed in portal MEDLINE, utilizando-se os descritores “karyotype” Europe and only some of the studied patients had a karyo- OR “chromosomal” OR “chromosome” AND “heart defects, type exam.
    [Show full text]
  • Possible Misdiagnosis of 46,XX Testicular Disorders of Sex
    Int. J. Med. Sci. 2020, Vol. 17 1136 Ivyspring International Publisher International Journal of Medical Sciences 2020; 17(9): 1136-1141. doi: 10.7150/ijms.46058 Research Paper Possible misdiagnosis of 46,XX testicular disorders of sex development in infertile males Tong Chen1,2†, Linlin Tian1,3†, Xianlong Wang1, Demin Fan4, Gang Ma1, Rong Tang1, Xujun Xuan1,5 1. Center for Reproductive Medicine, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, Shandong 250021, P.R. China 2. Department of Pediatric Surgery, Shanghai Children's Hospital, Shanghai Jiao Tong University, Shanghai, 200062, P.R. China 3. Department of microbiology, Faculty of Basic Medical Sciences, Guilin Medical University, Guilin, Guangxi 541004, P.R. China 4. Department of Urology, Shandong Provincial Qianfoshan Hospital, Jinan, Shandong 250002, P.R. China 5. Department of Andrology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, 518107, P.R. China. †Tong Chen and Linlin Tian contributed equally to this study. Corresponding author: Xujun Xuan, Department of Andrology, The Seventh Affiliated Hospital, Sun Yat-sen University, Shenzhen, 518107, P.R. China. E-mail: [email protected] © The author(s). This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/). See http://ivyspring.com/terms for full terms and conditions. Received: 2020.03.16; Accepted: 2020.04.23; Published: 2020.05.11 Abstract Objectives: The 46,XX disorders of sex development (DSD) is a rare genetic cause of male infertility and possible misdiagnosis of this condition has never been reported.
    [Show full text]
  • Autism Spectrum Disorder Associated with 49,XYYYY: Case Report and Review of the Literature
    Demily et al. BMC Medical Genetics (2017) 18:9 DOI 10.1186/s12881-017-0371-1 CASEREPORT Open Access Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature Caroline Demily1*, Alice Poisson1, Elodie Peyroux1, Valérie Gatellier1, Alain Nicolas2, Caroline Rigard1, Caroline Schluth-Bolard3, Damien Sanlaville3 and Massimiliano Rossi3 Abstract Background: Sex chromosome aneuploidies occur in approximately one in 420 live births. The most frequent abnormalities are 45,X (Turner syndrome), 47,XXX (triple X), 47,XXY (Klinefelter syndrome), and 47,XYY. The prevalence of males with more than one extra sex chromosome (e.g. 48,XXYY or 48,XXXY) is less common. However, the literature provides little information about the cognitive and behavioural phenotype and the natural history of the disease. We report the clinical, neurocognitive, social cognitive and psychiatric characterization of a patient with 49,XYYYY syndrome. Case presentation: The patient presented with a complex phenotype including a particular cognitive profile with intellectual deficiency and autism spectrum disorder (ASD) with limited interests. Moreover, social anxiety disorder with selective mutism and separation anxiety disorder were observed (DSM-5 criteria, MINI Assessment). Conclusion: It is now admitted that 49,XYYYY has unique medical, neurodevelopmental and behavioural characteristics. Interestingly, ASD is more common in groups with Y chromosome aneuploidy. This clinical report suggests that understanding the cognitive and social functioning of these patients may provide new insights into possible therapeutic strategies, as cognitive remediation or social cognitive training. Keywords: XYYYY, Autism spectrum disorder, Social cognition, Neurocognition, Behavioural disorders Background 48,XYYY and 49,XYYYY karyotypes are very rare: less Sex chromosome aneuploidies (SCA) occur in approxi- than ten cases have been described for 48,XYYY and mately one in 420 live births [1].
    [Show full text]
  • Cell Biology
    Course Code-EDU161 and Course Name:Botany Aneuploidy: Meaning, Forms and Importance | Cell Biology Meaning of Aneuploidy: Aneuploidy is the presence of chromosome number that is different from the simple multiple of the basic chromosome number. An organism which contains one or more incomplete chromosome sets is known as aneuploid. Aneuploidy can be either due to loss of one or more chromosomes (hypo-ploidy) or due to addition of one or more chromosomes to complete chromosome complement (hyper-ploidy). Hypo-ploidy may be due to loss of a single chromosome – monosomy (2n – 1), or due to loss of one pair of chromosomes – nullisomy (2n – 2). Similarly, hyper-ploidy may involve addition of either a single chromosome-trisomy (2n + 1) or a pair of chromosomes (2n + 2) – tetrasomy (Fig. 11.2). Forms of Aneuploidy: Monosomy: Monosomy is the phenomenon where an individual lacks one or a few non-homologous chromosome(s) of a diploid complement Types of Monosomy: Single monosomies lack one complete chromosome (2n – 1), these create major imbalance and may not be tolerated in diploids. Monosomies, however, are viable in polyploid species, in which the loss of one chromosome has a less marked effect. For instance, in ordinary tobacco, Nicotiana tabacum, which is a tetraploid species with 2n = 48 chromosomes, a series of different monosomic types with 47 chromosomes is known. The number of possible monosomies in an organism is equal to the haploid chromosome number. Double monosomies (2n – 1 – 1) or triple monosomies (2n – 1 – 1 – 1) could also be produced in polyploids. Origin of Monosomy: The origin of the monosomies may be from the production of n – 1 types of gametes due to rare nondisjunction of a bivalent.
    [Show full text]