DOCSLIB.ORG

Partial Monosomy of Chromosome 10 Short Arms

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Partial Monosomy of Chromosome 10 Short Arms J Med Genet: first published as 10.1136/jmg.20.2.107 on 1 April 1983. Downloaded from Journal of Medical Genetics, 1983, 20, 107-111 Partial monosomy of chromosome 10 short arms A GENCIK*, U BRONNIMANt, R TOBLERt, AND P AUJF DER MAUR* From *Zytogenetisches Labor, Pathologisches Institut der Universitdt, Bern; and tSduglingsspital Elfenau, Bern, Switzerland. SUMMARY Two children with monosmy IOp13 are reported. In the first case the monosomy was the result of a maternal balanced translocation t(3;10) (p27;pl3) while the second case was a de novo mutation. We reviewed clinical details of cases reported so far and found that certain symptoms are typical of the deletion of a comparatively large segment of chromosome 10 short arms. These symptoms include mental and growth retardation, skull abnormalities, antimongoloid slant of the eyes, ear abnormalities, anteverted nostrils, abnormalities of the hands and feet, cryptorchidism in boys, and, primarily, hypoplasia or aplasia of the olfactory bulbs and olfactory tracts as well as narrow palpebral fissures or eyelid ptosis. Since the first description by Elliott et al1 of a Family A probable partial deletion of lOp in a child with many clinical symptoms, a number of reports of patients II 1 12 with lOp partial monosomy have been published,2-7 copyright. thus enlarging the clinical picture. Deletion of part of the chromosome 10 short arms associated with deletion of the long arm terminal segment is also found in cases with ring chromosome 1 2 3 4 5 6 7 8 9 10 11 12 13 10.8-12 As a rule, the deletion of both telomeric Farmily B W Congenital anomalies segments is small and the clinical picture is not as I E} 4 ETranslocation carrier severe as in cases of the above mentioned iOp partial 1 2 E1Normal karyotype http://jmg.bmj.com/ monosomy. [R Monosomy lOp Defined chromosome abnormalities, particularly Trisomy lOp monosomies, are U5 lt * Abortion suitable material for human 1 2 Z2l Dead genome mapping. Two enzyme loci have been thought to be located on lOp, namely red blood cell FIG 1 Pedigrees of the families with partial monosomy hexokinase (HK1) and pyrophosphatase (inorganic) 'op. (PF).1314 hernia and cryptorchidism were found. Cytogenetic on September 28, 2021 by guest. Protected Case reports examination in the pre-banding era revealed an apparently normal male karyotype. The infant died FAMILY A (FIG 1) suddenly at the age of 3 months. The second child The proband comes from a rural family of low (111.10), a boy with partial trisomy of chromosome intelligence who were reluctant to cooperate. The 10 short arms, was born in 1971. He showed retarded first (illegitimate) child (111.9) was born 10 days speech development at the age of 10 and minute preterm in 1969. Birthweight was 2750g and head cerebral motor defects, but development was normal circumference was 34.5cm. The infant had dys- and there were no dysmorphic features. morphic features including quadricephalic skull, low set and abnormally shaped ears, and aphony with Case ] (III.13) normally formed epiglottis and normal larynx. A This was the fifth child of the family. Delivery bifid uvula was also found. The eyes had an occurred 2 weeks before term. Birthweight was antimongoloid slant and there was micrognathia and 2760 g, length was 47 cm, and head circumference anteverted nostrils. In addition, bilateral inguinal was 34 cm. During the postnatal period a very soft Received for publication 2 August 1982. cry and trouble in sucking were noted. Examination 107 J Med Genet: first published as 10.1136/jmg.20.2.107 on 1 April 1983. Downloaded from 108 A Geneik, U Bronniman, R Tobler, and P Aufder Maur at the clinic during the first month of life showed a limited mobility and a constantly open mouth: he dysmorphic syndrome with the following signs: frequently ground his teeth. The skull was flattened quadricephalic skull with prominent forehead, broad at the sides and the face was asymmetrical. Ptosis skull sutures, abnormally shaped low set ears was more prominent on the right side. Mild hyper- rotated backwards, flat nose bridge, anteverted telorism, divergent strabismus, and a beak-like nose nostrils, high palate, hypertelorism, ptosis, more with a flattened tip were observed. The alveolar arch pronounced on the left side, the forefinger crossing of the maxilla was prominent and the teeth were over the middle finger, and cryptorchidism. The abnormally formed. The chin slanted backwards, the infant's cry was soft and purring. Neurological ears were not fully formed and were small, rotated examination showed overall muscular hypotonia as backwards, and very low set (fig 2a). The hair-line well as weak sucking and gripping reflexes. Abduc- was low at the nape of the neck. Red blood cell tion of the hips was limited. Congenital hypothy- hexokinase determinations gave normal values. roidism was also found. Repeated EEG examinations Cytogenetic examination showed a karyotype of showed normal findings although epileptiform 46,XY,del(10)(p13) (fig 3b). spasms were observed from the 8th to the 18th week ofage. At the age of 14 months amblyopia associated FAMILY B (FIG 1) with divergent strabismus was noted. Psychomotor The proband (case 2, 11.2) was the third child of a development has been greatly retarded since the first 28-year-old mother and 36-year-old father. Delivery examination. occurred 2 weeks after term. Birth weight was 2800 g, Examination at the age of4 years showed a clinical length was 48 cm, and head circumference was 35 cm. picture dominated by marked psychomotor and Clinical examination revealed the following (fig 2b): growth retardation. The child could not walk, hypertelorism, abnormally shaped low set large ears, contact was very poor, and no signs of speech were rotated backwards, anteverted nostrils, microgna- present. The mask-like face showed extremely thia, short and thick neck, syndactyly offingers 3 and 4, clinodactyly, transverse creases on both palms, hypospadias, and cryptorchidism. Cardiological copyright. examination showed a developmental heart defect. The child had to be fed through a 'tube because of sucking difficulties. Despite intensive cardiac therapy, the congenital heart defect led to acute heart and respiratory failure, resulting in the death of the child on the 17th day of life. Cytogenetic examination revealed a terminal deletion in the chromosome 10 http://jmg.bmj.com/ short arms with a break in band lOpi 3 (fig 3c). Discussion Stene and Stengel-Rutkowski'5 analysed 11 families with familial translocations involving a segment of the short arm of chromosome 10, resulting in partial on September 28, 2021 by guest. Protected trisomy lOp. However monosomy of the chromo- FIG 2 (a) Case I at 4 years of age. b) Case 2 at 2 weeks some 10 short arms was not found in any member of of age. the families. All six cases reported so far of partial monosomy lOp,2-7 as well as our second case, have arisen de novo. In contrast, all four segregation ::- possibilities, including a child with partial monosomy lOp, were found in our first family, that is, the child- ren of a mother carrying a balanced translocation t(3 ;10). In this family, in addition to one child with a normal karyotype (fig 1) and one with the same balanced translocation as his mother, a third child, a FIG 3 Partial karyotypes (G bands) (a) Mother ofcase I boy, had trisomy of the distal segment of chromo- (family A, Il.10) with translocation tr(3;10)(p27;p13). some 10 short arms with severe clinical symptoms. (b) Case I (family A, I1I.13) with del((lO)(pl3). (c) Case 2 The first child had a phenotype similar to that of his (family B, I1.2) with del(10)(p13). mQnosomic sib; thus he may have been carrying a J Med Genet: first published as 10.1136/jmg.20.2.107 on 1 April 1983. Downloaded from Partial monosomy of chromosome 10 short arnms 109 oCO . 0 CS *- 0 aS-0 ,- aD E~ c C o o > ° : D s 0 6a U6 sIsold + + + + ja|f pun spute Jo SdijnluoUv + + +++ + + + lusIpfLfdJoJadJtf ++ + + + + + sun! jntuiofjnwu lOUd?! + + + jJaJap 1lL7adi fnf!udguon + + + + + sd;ddlu padods Klap!M + + + + + + copyright. + + + + + + + S.jndfo iLnuiouV + + + + + + + N/!1l}vOU palid947 + snSuvlqndg + + + + http://jmg.bmj.com/ sainssJ Ivniqadljd P!OIOSuOWt;UV + + + + + uIspoIdla.Jdd,H + uns Jfo tflvwOuV + + + + + + uoWllplLnPj ZJM0O19 + + + + + + + + + + on September 28, 2021 by guest. Protected U, L79p ID7 78V -o 0 00 0 0 o o 00o 8 (8) Utg 00 C'I ,n N ci 't z Z z Z z [J.~,v ~ 1. cg ol t VA. z' _ _ _ _ C 0~ _U_Q Q z".x a 0 0C CUT K0 t J Med Genet: first published as 10.1136/jmg.20.2.107 on 1 April 1983. Downloaded from 110 A Gencik, U Bronniman, R Tobler, and P Aufder Maur chromosome anomaly of the monosomy type, for retardation in growth (five cases), widely spaced although trisomy cannot be excluded. The marked nipples (four cases), and strabismus (three cases), in similarity of the clinical picture to that of his mono- addition to other symptoms. Again, one case showed somic sib (quadricephalic head, weak cry, and hyperactive behaviour. Narrow palpebral fissures or sucking problems) and the presence of features like ptosis were not present in any of the cases. It should' antimongoloid slant of the eyes and anteverted however, be pointed out that these signs are not nostrils that do not occur in trisomy l0p16 would usually observed until a certain age has been reached favour monosomy. and of the 14 patients reported, six died in early The fact that there are many more cases of childhood.
Load more

Recommended publications
  • Monosomy X Turner Syndrome Information for Patients
    Monosomy X Turner syndrome Information for patients The healthcare professional responsible for your care has given you this leaflet because you have been identified by the Harmony® Prenatal Test as having a high probability of a chromosome disorder in your pregnancy. This fact sheet contains more information about the particular genetic disorder mentioned in your Harmony report. We recommend that you also discuss your result with an experienced doctor or genetic counsellor. Turner syndrome, or Monosomy X, is a sex chromosome disorder that occurs in females when there is only one copy of the X chromosome instead of the expected two (Figure 1). It occurs in at least one in every 2,500 female births. Monosomy X may be associated with an increased risk of miscarriage in the first or second trimester. More than half of those withT urner syndrome will be mosaic, meaning some of their cells have just one X chromosome and the other cells have two X chromosomes. Features and symptoms of Turner syndrome include subtle changes in physical appearance, short stature, infertility and learning difficulties, as well as some potential health conditions, including cardiac conditions, hypothyroidism, diabetes and autoimmune disease. Babies who are born with Turner syndrome could have a number of the features and symptoms of the syndrome, however, not everyone will have them all and severity will vary significantly. Mosaicism also plays a role in the varied severity of the syndrome. Although there is no cure for Turner syndrome, many of the associated symptoms can be treated. Girls with Turner syndrome may need regular health checks of their heart, kidneys and reproductive system throughout their lives.
    [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]
  • Construction of Stable Mouse Arti Cial Chromosome from Native Mouse
    Construction of Stable Mouse Articial Chromosome from Native Mouse Chromosome 10 for Generation of Transchromosomic Mice Satoshi Abe Tottori University Kazuhisa Honma Trans Chromosomics, Inc Akane Okada Tottori University Kanako Kazuki Tottori University Hiroshi Tanaka Trans Chromosomics, Inc Takeshi Endo Trans Chromosomics, Inc Kayoko Morimoto Trans Chromosomics, Inc Takashi Moriwaki Tottori University Shusei Hamamichi Tottori University Yuji Nakayama Tottori University Teruhiko Suzuki Tokyo Metropolitan Institute of Medical Science Shoko Takehara Trans Chromosomics, Inc Mitsuo Oshimura Tottori University Yasuhiro Kazuki ( [email protected] ) Tottori University Research Article Page 1/21 Keywords: mouse articial chromosome (MAC), microcell-mediated chromosome transfer (MMCT), chromosome engineering, transchromosomic (Tc) mouse, humanized model mouse Posted Date: July 9th, 2021 DOI: https://doi.org/10.21203/rs.3.rs-675300/v1 License: This work is licensed under a Creative Commons Attribution 4.0 International License. Read Full License Page 2/21 Abstract Mammalian articial chromosomes derived from native chromosomes have been applied to biomedical research and development by generating cell sources and transchromosomic (Tc) animals. Human articial chromosome (HAC) is a precedent chromosomal vector which achieved generation of valuable humanized animal models for fully human antibody production and human pharmacokinetics. While humanized Tc animals created by HAC vector have attained signicant contributions, there was a potential issue to be addressed regarding stability in mouse tissues, especially highly proliferating hematopoietic cells. Mouse articial chromosome (MAC) vectors derived from native mouse chromosome 11 demonstrated improved stability, and they were utilized for humanized Tc mouse production as a standard vector. In mouse, however, stability of MAC vector derived from native mouse chromosome other than mouse chromosome 11 remains to be evaluated.
    [Show full text]
  • Classic and Molecular Cytogenetic Analyses Reveal Chromosomal Gains and Losses Correlated with Survival in Head and Neck Cancer Patients
    Vol. 11, 621–631, January 15, 2005 Clinical Cancer Research 621 Classic and Molecular Cytogenetic Analyses Reveal Chromosomal Gains and Losses Correlated with Survival in Head and Neck Cancer Patients Na´dia Aparecida Be´rgamo,1 that acquisition of monosomy 17 was a significant (P = Luciana Caricati da Silva Veiga,1 0.0012) factor for patients with a previous family history of Patricia Pintor dos Reis,4 Ineˆs Nobuko Nishimoto,3 cancer. Conclusions: The significant associations found in this Jose´ Magrin,3 Luiz Paulo Kowalski,3 4 2 study emphasize that alterations of distinct regions of the Jeremy A. Squire, and Sı´lvia Regina Rogatto genome may be genetic biomarkers for a poor prognosis. 1Department of Genetics, Institute of Biosciences and 2NeoGene Losses of chromosomes 17 and 22 can be associated with Laboratory, Department of Urology, Faculty of Medicine, Sa˜o Paulo a family history of cancer. State University; 3Department of Head and Neck Surgery and Otorhinolaryngology, AC Camargo Hospital, Sa˜o Paulo, Brazil and 4Department of Cellular and Molecular Biology, Princess Margaret INTRODUCTION Hospital, Ontario Cancer Institute, University of Toronto, Toronto, Carcinomas of the head and neck represent the sixth most Ontario, Canada frequent cancer worldwide and f90% to 95% are squamous cell carcinomas. Tobacco and alcohol consumption are the ABSTRACT most important nongenetic risk factors associated with the Purpose: Genetic biomarkers of head and neck tumors development of head and neck squamous cell carcinomas could be useful for distinguishing among patients with (HNSCC; ref. 1). Estimated age-standardized rates per similar clinical and histopathologic characteristics but 100,000 for 1990 showed 12.8 men and 3.7 women of oral having differential probabilities of survival.
    [Show full text]
  • Abstracts from the 50Th European Society of Human Genetics Conference: Electronic Posters
    European Journal of Human Genetics (2019) 26:820–1023 https://doi.org/10.1038/s41431-018-0248-6 ABSTRACT Abstracts from the 50th European Society of Human Genetics Conference: Electronic Posters Copenhagen, Denmark, May 27–30, 2017 Published online: 1 October 2018 © European Society of Human Genetics 2018 The ESHG 2017 marks the 50th Anniversary of the first ESHG Conference which took place in Copenhagen in 1967. Additional information about the event may be found on the conference website: https://2017.eshg.org/ Sponsorship: Publication of this supplement is sponsored by the European Society of Human Genetics. All authors were asked to address any potential bias in their abstract and to declare any competing financial interests. These disclosures are listed at the end of each abstract. Contributions of up to EUR 10 000 (ten thousand euros, or equivalent value in kind) per year per company are considered "modest". Contributions above EUR 10 000 per year are considered "significant". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal and fetal echocardiography. The molecular karyotyping Genetics revealed a gain in 8p11.22-p23.1 region with a size of 27.2 Mb containing 122 OMIM gene and a loss in 8p23.1- E-P01.02 p23.3 region with a size of 6.8 Mb containing 15 OMIM Prenatal diagnosis in a case of 8p inverted gene. The findings were correlated with 8p inverted dupli- duplication deletion syndrome cation deletion syndrome. Conclusion: Our study empha- sizes the importance of using additional molecular O¨. Kırbıyık, K. M. Erdog˘an, O¨.O¨zer Kaya, B. O¨zyılmaz, cytogenetic methods in clinical follow-up of complex Y.
    [Show full text]
  • 134 Mb (Almost the Same As the Size of Chromosome 10). It Is ~4–4.5% of the Total Human Genome
    Chromosome 11 ©Chromosome Disorder Outreach Inc. (CDO) Technical genetic content provided by Dr. Iosif Lurie, M.D. Ph.D Medical Geneticist and CDO Medical Consultant/Advisor. Ideogram courtesy of the University of Washington Department of Pathology: ©1994 David Adler.hum_11.gif Introduction The genetic size of chromosome 11 is ~134 Mb (almost the same as the size of chromosome 10). It is ~4–4.5% of the total human genome. The length of its short arm is ~50 Mb; the length of its long arm in ~84 Mb. Chromosome 11 is a very gene–rich area. It contains ~1,500 genes. Mutations of ~200 of these genes are known to cause birth defects or some functional abnormalities. The short arm of chromosome 11 contains a region which is known to be imprinted. As a result duplications of this region will have different manifestations depending on the sex of the parent responsible for this defect. Phenotypes of persons with duplications of the maternal origin will be different from the phenotypes of the persons with a paternal duplication of the same area. There are ~1,400 patients with different structural abnormalities of chromosome 11 as the only abnormality or in association with abnormalities for other chromosomes. At least 800 of these patients had different deletions of chromosome 11. Deletions of the short arm have been reported in ~250 patients (including those with an additional imbalance); deletions of the long arm have been described in ~550 patients. There are two syndromes caused by deletions of the short arm (both of these syndromes have been known for several years) and one well–known syndrome caused by distal deletions of the long arm (Jacobsen syndrome).
    [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]
  • WNT16 Is a New Marker of Senescence
    Table S1. A. Complete list of 177 genes overexpressed in replicative senescence Value Gene Description UniGene RefSeq 2.440 WNT16 wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 2, mRNA. Hs.272375 NM_016087 2.355 MMP10 matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA. Hs.2258 NM_002425 2.344 MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA. Hs.375129 NM_002422 2.300 HIST1H2AC Histone cluster 1, H2ac Hs.484950 2.134 CLDN1 claudin 1 (CLDN1), mRNA. Hs.439060 NM_021101 2.119 TSPAN13 tetraspanin 13 (TSPAN13), mRNA. Hs.364544 NM_014399 2.112 HIST2H2BE histone cluster 2, H2be (HIST2H2BE), mRNA. Hs.2178 NM_003528 2.070 HIST2H2BE histone cluster 2, H2be (HIST2H2BE), mRNA. Hs.2178 NM_003528 2.026 DCBLD2 discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA. Hs.203691 NM_080927 2.007 SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), mRNA. Hs.594481 NM_002575 2.004 HIST2H2BE histone cluster 2, H2be (HIST2H2BE), mRNA. Hs.2178 NM_003528 1.989 OBFC2A Oligonucleotide/oligosaccharide-binding fold containing 2A Hs.591610 1.962 HIST2H2BE histone cluster 2, H2be (HIST2H2BE), mRNA. Hs.2178 NM_003528 1.947 PLCB4 phospholipase C, beta 4 (PLCB4), transcript variant 2, mRNA. Hs.472101 NM_182797 1.934 PLCB4 phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. Hs.472101 NM_000933 1.933 KRTAP1-5 keratin associated protein 1-5 (KRTAP1-5), mRNA. Hs.534499 NM_031957 1.894 HIST2H2BE histone cluster 2, H2be (HIST2H2BE), mRNA. Hs.2178 NM_003528 1.884 CYTL1 cytokine-like 1 (CYTL1), mRNA. Hs.13872 NM_018659 tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), 1.848 TNFRSF10D Hs.213467 NM_003840 mRNA.
    [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]
  • Gene Mapping of Familial Autosomal Dominant Dilated Cardiomyopathy to Chromosome 10Q21-23
    Gene mapping of familial autosomal dominant dilated cardiomyopathy to chromosome 10q21-23. K R Bowles, … , R Pignatelli, J A Towbin J Clin Invest. 1996;98(6):1355-1360. https://doi.org/10.1172/JCI118922. Research Article Dilated cardiomyopathy (DCM) is the most common form of primary myocardial disorder, accounting for 60% of all cardiomyopathies. In 20-30% of cases, familial inheritance can be demonstrated; an autosomal dominant transmission is the usual type of inheritance pattern identified. Previously, genetic heterogeneity was demonstrated in familial autosomal dominant dilated cardiomyopathy (FDCM). Gene localization to chromosome 1 (1p1-1q1 and 1q32), chromosome 3 (3p25-3p22), and chromosome 9 (9q13-9q22) has recently been identified. We report one family with 26 members (12 affected) with familial autosomal dominant dilated cardiomyopathy in which linkage to chromosome 10 at the 10q21-q23 locus is identified. Using short tandem repeat polymorphism (STR) markers with heterozygosity > 70%, 169 markers (50% of the genome) were used before linkage was found to markers D10S605 and D10S201 with a pairwise LOD score = 3.91, theta = 0, penetrance = 100% for both markers. Linkage to 1p1-1q1, 1q32, 3p25-3p22, and 9q13-9q22 was excluded. We conclude that a new locus for pure autosomal dominant FDCM exists, and that this gene is localized to a 9 cM region of 10q21-10q23. The search for the disease causing gene and the responsible mutation(s) is ongoing. Find the latest version: https://jci.me/118922/pdf Gene Mapping of Familial Autosomal Dominant Dilated Cardiomyopathy to Chromosome 10q21-23 Karla R. Bowles,* Robert Gajarski,‡ Patrick Porter,‡ Veronica Goytia,‡ Linda Bachinski,ʈ Robert Roberts,ʈ Ricardo Pignatelli,‡ and Jeffrey A.
    [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]
  • Chromosome 10
    Chromosome 10 Description Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 10, one copy inherited from each parent, form one of the pairs. Chromosome 10 spans more than 133 million DNA building blocks (base pairs) and represents between 4 and 4.5 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 10 likely contains 700 to 800 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 10. 10q26 deletion syndrome 10q26 deletion syndrome is a condition that results from the loss (deletion) of a small piece of chromosome 10 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated 10q26. The signs and symptoms of 10q26 deletion syndrome vary widely, even among affected members of the same family. Affected individuals may have distinctive facial features, growth problems, mild to moderate intellectual disability, developmental delay, genital abnormalities in males, or skeletal or heart defects. People with 10q26 deletion syndrome are missing between 3.5 million and 17 million DNA building blocks (base pairs), also written as 3.5 and 17 megabases (Mb), at position q26 on chromosome 10. The exact size of the deletion varies, and it is unclear what exact region needs to be deleted to cause the condition.
    [Show full text]