DOCSLIB.ORG

Syndrome of the Month Thrombocytopenia and Absent Radius

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Syndrome of the Month Thrombocytopenia and Absent Radius J Med Genet: first published as 10.1136/jmg.24.2.79 on 1 February 1987. Downloaded from Syndrome of the month Journal of Medical Genetics 1987, 24, 79-83 Thrombocytopenia and absent radius (TAR) syndrome JUDITH G HALL From the Clinical Genetics Services, Grace Hospital, Vancouver, British Columbia V6H 3V5, Canada. Thrombocytopenia and absent radius (TAR) has quite severe in infancy with platelet counts often become recognised as a relatively common congeni- below 10 000 per mm3. It appears from histories that tal anomaly syndrome characterised by hypomega- thrombocytopenia is precipitated by stress, infec- karyocytic thrombocytopenia (less than 100 000 tions, gastrointestinal disturbances, and surgery. platelets per mm3) and bilateral absence of the Platelet counts are usually in the 15 000 to 30 000 radius with an autosomal recessive pattern of range in infancy and improve to almost normal inheritance. Initially the condition was considered to range by adulthood. Platelet aggregation and be a form of Fanconi's anaemia; however, by 1969 a survival times are reduced.4 total of 40 cases had been reported and it could be Leukaemoid reactions have been recorded in distinguished as a specific entity with a quite about 60 to 70% of patients during their first year of different natural history from Fanconi's anaemia.1 life.1 White blood counts greater than 35 000 per copyright. Subsequently, more than a hundred cases have been mm3 with a shift to the left occur, again particularly published from all over the world representing a with stress and infections. Thrombocytopenia is broad spectrum of ethnic groups. A variety of usually worse during these leukaemoid reactions interesting hypotheses has been made, but the and hepatosplenomegaly often occurs during them. pathogenic mechanisms producing the syndrome are A few of the cases of TAR from older reports have still not understood. The clinical features of TAR been described as having leukaemia, but in retro- include haematological abnormalities (of platelets, spect these were probably leukaemoid reactions, http://jmg.bmj.com/ white cells, and possibly red cells), skeletal abnor- since true leukaemia has never been documented in malities (primarily of both arms and legs), cardiac a patient with TAR. abnormalities (particularly tetralogy of Fallot and Eosinophilia, both in bone marrow and peripheral atrial septal defects), and cow's milk allergy or blood smears, has been seen in about half of the intolerance (leading to gastrointestinal disturb- patients with TAR, particularly those who have an ance in the first few years of life). A number of other allergic response to cow's milk.' unusual features have been described. Anaemia is described in a large number of patients. It is not clear whether this is entirely on September 30, 2021 by guest. Protected Haematological abnormalities related to blood loss from bleeding secondary to thrombocytopenia or whether there may be a The most striking haematological abnormality is, of shortened RBC lifespan. There appears to be a course, thrombocytopenia which results from haemolytic component to the anaemia, particularly decreased production from megakaryocytes. during the first year of life. Thrombocytopenia occurs in almost 100% of patients and is symptomatic in about 90% of Skeletal abnormalities (figs 1 to 3) patients during the first four months of life.1 Megakaryocytes from bone marrow aspirations are The most striking skeletal abnormality is bilateral small, basophilic, and vacuolated. 'Storage pool absence of the radius which is present in 100% of disease' of platelets has been reported in two cases' and the diagnosis of TAR should not be cases.2 3Thrombocytopenia is episodic but can be' considered unless there is complete absence of the Received for publication 5 May 1986. radius bilaterally. Necropsy dissection of limbs in Accepted for publication 22 May 1986. TAR syndrome indicates that the radius was never 79 J Med Genet: first published as 10.1136/jmg.24.2.79 on 1 February 1987. Downloaded from 80 Judith G Hall i i copyright. FIG 1 Note petechiae and short arms with radially deviated FIG 2 Note short arms with complete hand. Also note hands. Hands have all five fingers. abnormal leg and knee. http://jmg.bmj.com/ present since the muscles which would have depending on whether or not a normal head of the attached to the radius are attached instead to the humerus has been present. Hypoplasia of muscles carpal bones.5 In contrast to other conditions with and soft tissue in the arm and shoulder may also absence of the radius, the thumb is always present occur. Typically, the hand is radially deviated and and relatively functional in TAR. If the thumbs are becomes more so with age. This probably occurs absent, other diagnoses must be considered. The because of the abnormal attachment of the muscles only other condition in which bilateral absence of which usually attach to the radius; they are attached on September 30, 2021 by guest. Protected the radius and the presence of thumbs has been seen to the lateral carpals and with contraction pull the is in some cases of Roberts' syndrome.6 The hands wrist over radially.5 in TAR cannot really be considered normal in that Although not initially described, the legs are there is limited extension of fingers, radial deviation involved in about 50% of cases of TAR. Involve- of the hand, and hypoplasia of the carpal and ment includes dislocation of the hips, subluxation of phalangeal bones. the knees, coxa valga, dislocation of the patella, The ulna is abnormal in TAR. It is somewhat femoral and tibial torsion, abnormal tibiofibular shortened and malformed in all cases but is absent joint, ankylosis of the knee, small feet, and various bilaterally in about 20% of cases and unilaterally in foot deformities with abnormal toe placement 10% of cases. The humerus is abnormal in at least (scrambling of the toes).' It would appear from the half of the cases and absent bilaterally in 5 to 10% of cases which have been described that severity of cases. In this situation, the five fingered hand arises upper limb involvement correlates with severity of from the shoulder. ' About 15% of cases are lower limb involvement, that is, the shorter the asymmetrical in that one arm is much shorter than upper arms, the more likely that the knees and legs the other. The shoulder joint may be abnormal will be involved. Even with severe shortening of the J Med Genet: first published as 10.1136/jmg.24.2.79 on 1 February 1987. Downloaded from Syndrome ofthe month 81 FIG 3 Note totally absent radius with presence offull hand. lower leg and absence of the fibula, all five toes are of cases of TAR. These are primarily tetralogy of present and there is a well formed foot. Three cases Fallot and atrial septal defects, but one case of of ankylosis of the femur to the residual bone in the dextrocardia has been reported. Congestive heart lower limb have been described.79 In these cases, failure and anaemia in the face of a surgically there may be a right angle between the femur and uncorrected congenital heart anomaly has been the copyright. the lower leg bone. Four cases have been described cause of death in some patients in the past. With the in which there is only one bone in the leg. From the availability of platelet transfusion, corrective cardiac experience regarding the arm in TAR, one would surgery should be undertaken if indicated. anticipate that this single bone is the femur, but proper pathological dissections are not yet available. Other abnormalities In less severe cases of lower limb involvement in TAR, various types of instability of the knees occur Other anomalies which have been reported include http://jmg.bmj.com/ with subluxation of the distal fibula medially and ptosis,10 dysseborrhoeic dermatitis leading to bleed- posteriorly behind the femur. Approximately 20% ing in the skin,"1 excessive perspiration, pedal dorsal of TAR patients have significant lower limb involve- oedema,12 lateral clavicular hook,13 pancreatic ment which manifests as either stiff or subluxing cyst,14 Meckel's diverticulum, and uterine knees. 1 anomalies.' Mental retardation has been reported Other skeletal abnormalities in TAR include but it appears in all cases to be related to intracranial minor rib and spine abnormalities and hypoplasia of bleeding and not due to a basic structural CNS the mandible and maxilla. abnormality. Similarly, glaucoma has been reported on September 30, 2021 by guest. Protected and, again, this appears to be related to intraocular Stature bleeding. Patients with TAR are short compared with other Natural history family members. On average, their height is around the 10th centile of the normal height curve, which The natural history of TAR during the first few means that many patients with TAR are well below years of life includes a number of problems. Cow's the 3rd centile; however, they grow parallel to the milk allergy or intolerance is relatively common and 3rd centile. No specific endocrine abnormalities exposure to cow's milk may precipitate episodes of have been found to be responsible for the mild short thrombocytopenia, eosinophilia, and leukaemoid stature observed. reactions. i5 Diarrhoeal illness with associated thrombocytopenia used to be a common cause of Cardiac abnormalities death before platelet transfusions were available. At least three patients have had trials of withdrawal of Cardiac abnormalities occur in approximately 30% cow's milk and had exacerbation of haematological J Med Genet: first published as 10.1136/jmg.24.2.79 on 1 February 1987. Downloaded from 82 Judith G Hall problems when cow's milk was reintroduced. One there is considerable intra- and interfamilial varia- severely affected patient required hyperalimenta- bility as to the extent of involvement of the skeletal, tion for the first year of life.
Load more

Recommended publications
  • Thrombocytopenia-Absent Radius Syndrome
    Thrombocytopenia-absent radius syndrome Description Thrombocytopenia-absent radius (TAR) syndrome is characterized by the absence of a bone called the radius in each forearm and a shortage (deficiency) of blood cells involved in clotting (platelets). This platelet deficiency (thrombocytopenia) usually appears during infancy and becomes less severe over time; in some cases the platelet levels become normal. Thrombocytopenia prevents normal blood clotting, resulting in easy bruising and frequent nosebleeds. Potentially life-threatening episodes of severe bleeding ( hemorrhages) may occur in the brain and other organs, especially during the first year of life. Hemorrhages can damage the brain and lead to intellectual disability. Affected children who survive this period and do not have damaging hemorrhages in the brain usually have a normal life expectancy and normal intellectual development. The severity of skeletal problems in TAR syndrome varies among affected individuals. The radius, which is the bone on the thumb side of the forearm, is almost always missing in both arms. The other bone in the forearm, which is called the ulna, is sometimes underdeveloped or absent in one or both arms. TAR syndrome is unusual among similar malformations in that affected individuals have thumbs, while people with other conditions involving an absent radius typically do not. However, there may be other abnormalities of the hands, such as webbed or fused fingers (syndactyly) or curved pinky fingers (fifth finger clinodactyly). Some people with TAR syndrome also have skeletal abnormalities affecting the upper arms, legs, or hip sockets. Other features that can occur in TAR syndrome include malformations of the heart or kidneys.
    [Show full text]
  • TAR Syndrome, a Rare Case Report with Cleft Lip/Palate a Naseh, a Hafizi, F Malek, H Mozdarani, V Yassaee
    The Internet Journal of Pediatrics and Neonatology ISPUB.COM Volume 14 Number 1 TAR Syndrome, a Rare Case Report with Cleft Lip/Palate A Naseh, A Hafizi, F Malek, H Mozdarani, V Yassaee Citation A Naseh, A Hafizi, F Malek, H Mozdarani, V Yassaee. TAR Syndrome, a Rare Case Report with Cleft Lip/Palate. The Internet Journal of Pediatrics and Neonatology. 2012 Volume 14 Number 1. Abstract TAR (Thrombocytopenia-Absent Radius) is a clinically –defined syndrome characterized by hypomegakarocytic thrombocytopenia and bilateral absence of radius in the presence of both thumbs. We describe a female neonate as a rare case of TAR syndrome with orofacial cleft. Bone marrow aspiration of the patient revealed a cellular marrow with marked reduction of megakaryocytes. Our clinical observation is consistent with TAR syndrome. However, other syndromes with cleft lip/palate and radial aplasia like Roberts syndrome (tetraphocomelia), Edwards syndrome and Fanconi and sc phocomelia (which has less degree of limb reduction) should be considered. Our cytogenetic study excludes other overlapping chromosomal syndromes. RBM8A analysis may reveal nucleotide alteration, leading to definite diagnosis. Our objective is adding this cleft lip and cleft palate to the literature regarding TAR syndrome. - Eva Klopocki, Harald Schulz, Gabriele Straub,Judith Hall,Fabienne Trotier, et al(February 2007) ;Complex inheritance pattern Resembeling Autosomal Recessive Inheritance Involving a Microdeletion in Thrombocytopenia-Absent Radius Syndrome.The American Journal of Human Genetics 80:232-240 INTRODUCTION syndrome. The hemorrhage happens during the first 14 TAR is a clinically-defined syndrome characterized by months of life. Hedberg and associates concluded in a study thrombocytopenia and bilateral radial bone aplasia in the that 18 of 20 deaths in 76 patients were due to hemorrhagic forearm with thumbs present.
    [Show full text]
  • (TAR) Syndrome Without Significant Thrombocytopenia
    Open Access Case Report DOI: 10.7759/cureus.10557 Thrombocytopenia with Absent Radii (TAR) Syndrome Without Significant Thrombocytopenia Jael Cowan 1 , Taral Parikh 1 , Rajdeepsingh Waghela 1 , Ricardo Mora 2 1. Pediatrics, Woodhull Medical Center, Brooklyn, USA 2. Neonatology, Woodhull Medical Center, Brooklyn, USA Corresponding author: Jael Cowan, [email protected] Abstract Thrombocytopenia with absent radii (TAR) syndrome is a rare genetic syndrome that occurs with a frequency of about 0.42 cases per 100,000 live births. It is characterized by hypo-megakaryocytic thrombocytopenia with bilateral absent radii and the presence of both thumbs. The thrombocytopenia is initially very severe, manifesting in the first few weeks to months of life, but subsequently improves with time to reach near normal values by one to two years of age. We present a case of a newborn with TAR syndrome with an atypical presentation of mild thrombocytopenia in the first week of life, with early normalization of platelet counts in the neonatal period. The patient deviates from the normal pattern in which 95% of patients with TAR syndrome usually develop significant thrombocytopenia (platelet counts of less than 50 x 10 9 platelets/L) within the first four months of life. Additionally, the absence of hypo-megakaryocytes on peripheral smear sets this patient apart from the typical cases of TAR syndrome. TAR syndrome is often associated with significant morbidity and mortality secondary to severe thrombocytopenia, which occurs with the highest frequency in the first 14 months of life. The most common cause of mortality is due to a severe hemorrhagic event occurring in the brain, gastrointestinal tract, and other organs.
    [Show full text]
  • 1Q21.1 Deletion and a Rare Functional Polymorphism in Siblings with Thrombocytopenia-Absent Radius–Like Phenotypes
    Downloaded from molecularcasestudies.cshlp.org on September 26, 2021 - Published by Cold Spring Harbor Laboratory Press COLD SPRING HARBOR Molecular Case Studies | RESEARCH ARTICLE 1q21.1 deletion and a rare functional polymorphism in siblings with thrombocytopenia-absent radius–like phenotypes Seth A. Brodie,1 Jean Paul Rodriguez-Aulet,2 Neelam Giri,2 Jieqiong Dai,1 Mia Steinberg,1 Joshua J. Waterfall,3 David Roberson,1 Bari J. Ballew,1 Weiyin Zhou,1 Sarah L. Anzick,3 Yuan Jiang,3 Yonghong Wang,3 Yuelin J. Zhu,3 Paul S. Meltzer,3 Joseph Boland,1 Blanche P. Alter,2 and Sharon A. Savage2 1Cancer Genomics Research Laboratory, Leidos Biomedical Research, NCI-Frederick, Rockville, Maryland 20850, USA; 2Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, 3Genetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20859, USA Abstract Thrombocytopenia-absent radii (TAR) syndrome, characterized by neonatal thrombocytopenia and bilateral radial aplasia with thumbs present, is typically caused by the inheritance of a 1q21.1 deletion and a single-nucelotide polymorphism in RBM8A on the nondeleted allele. We evaluated two siblings with TAR-like dysmorphology but lacking thrombocytopenia in infancy. Family NCI-107 participated in an IRB-approved cohort study and underwent comprehensive clinical and genomic evaluations, including aCGH, whole- exome, whole-genome, and targeted sequencing. Gene expression assays and electromo- bility shift assays (EMSAs) were performed to evaluate the variant of interest. The previously identified TAR-associated 1q21.1 deletion was present in the affected siblings and one healthy parent. Multiple sequencing approaches did not identify previously described TAR-associated SNPs or mutations in relevant genes.
    [Show full text]
  • Soonerstart Automatic Qualifying Syndromes and Conditions
    SoonerStart Automatic Qualifying Syndromes and Conditions - Appendix O Abetalipoproteinemia Acanthocytosis (see Abetalipoproteinemia) Accutane, Fetal Effects of (see Fetal Retinoid Syndrome) Acidemia, 2-Oxoglutaric Acidemia, Glutaric I Acidemia, Isovaleric Acidemia, Methylmalonic Acidemia, Propionic Aciduria, 3-Methylglutaconic Type II Aciduria, Argininosuccinic Acoustic-Cervico-Oculo Syndrome (see Cervico-Oculo-Acoustic Syndrome) Acrocephalopolysyndactyly Type II Acrocephalosyndactyly Type I Acrodysostosis Acrofacial Dysostosis, Nager Type Adams-Oliver Syndrome (see Limb and Scalp Defects, Adams-Oliver Type) Adrenoleukodystrophy, Neonatal (see Cerebro-Hepato-Renal Syndrome) Aglossia Congenita (see Hypoglossia-Hypodactylia) Aicardi Syndrome AIDS Infection (see Fetal Acquired Immune Deficiency Syndrome) Alaninuria (see Pyruvate Dehydrogenase Deficiency) Albers-Schonberg Disease (see Osteopetrosis, Malignant Recessive) Albinism, Ocular (includes Autosomal Recessive Type) Albinism, Oculocutaneous, Brown Type (Type IV) Albinism, Oculocutaneous, Tyrosinase Negative (Type IA) Albinism, Oculocutaneous, Tyrosinase Positive (Type II) Albinism, Oculocutaneous, Yellow Mutant (Type IB) Albinism-Black Locks-Deafness Albright Hereditary Osteodystrophy (see Parathyroid Hormone Resistance) Alexander Disease Alopecia - Mental Retardation Alpers Disease Alpha 1,4 - Glucosidase Deficiency (see Glycogenosis, Type IIA) Alpha-L-Fucosidase Deficiency (see Fucosidosis) Alport Syndrome (see Nephritis-Deafness, Hereditary Type) Amaurosis (see Blindness) Amaurosis
    [Show full text]
  • Cytogenetics
    CYTOGENETICS Techniques Cytogenetic strategy Anna Sowińska-Seidler, Phd CYTOGENETICS • Classical • Molecular - Karyotype analysis - Molecular probes - Banding techniques - FISH, aCGH Elementary fibre Chromatin fibre Laemi loop Chromatid Metaphase chromosome Chromosome structure Chromosome types Chromosome types in human: Metacentric Submetacentric Akrocentric Human chromosome groups A 1-3 big metacentric chromosomes B 4-5 big submetacentric chromosomes C 6-12 and X medium submetacentric chromosomes D 13-15 big acrocentric chromosomes E 16-18 small submetacentric chromosomes F 19-20 small metacentric chromosomes G 21-22 and Y small acrocentric chromosomes A B C D E F G Aberrations autosomes sex chromosomes Aberrations numerical structural Numerical abnormalities of chromosomes Polyploidy Aneuploidy Triploidy Tetraploidy Trisomy Monosomy 3n 4n 2n +1 2n - 1 Numerical chromosomal abnormalities Polyploidy - Triploidy (69,XXX, XXY or XYY) 1-3% of all conceptions; amost never live born; do not survive Aneuploidy (autosomes) - Nullisomy (missing a pair of homologs) Pre-implantation lethal - Monosomy (one chromosome missing) Embryonic lethal - Trisomy (one extra chromosome) Usually lethal at embryonic or fetal stages, but trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) could be live born and trisomy 21 (Down syndrome) Aneuploidy (sex chromosomes) - Additional sex chromosomes (47, XXX; 47, XXY; 47, XYY) present relatively minor problems, with normal lifespan - Lacking a sex chromosome 45, X = Turner syndrome, About 99% of cases abort
    [Show full text]
  • Thrombocytopenia-Absent Radius (TAR) Syndrome Service At
    Thrombocytopenia-Absent Radius Syndrome (TAR) Contact details: Clinical Background and Genetics Bristol Genetics Laboratory Southmead Hospital . Thrombocytopenia-absent radius (TAR) syndrome is characterised by Bristol, BS10 5NB hypomegakaryocytic thrombocytopenia and bilateral radial aplasia in Enquiries: 0117 414 6168 the presence of both thumbs. FAX: 0117 414 6464 . These characteristic patterns differentiate TAR syndrome from other Email: [email protected] conditions with involvement of the radius, namely Holt-Oram Head of department: syndrome, Roberts syndrome and Fanconi Anaemia in which the Eileen Roberts FRCPath thumb is usually absent or severely hypoplastic. Additional skeletal features associated with TAR syndrome include Consultant Lead for shortening and, less commonly, aplasia of the ulna and/or humerus. Molecular Genetics: . The hands may show limited extension of the fingers, radial deviation Maggie Williams FRCPath and hypoplasia of the carpal and phalangeal bones. Service Lead: . The majority of TAR syndrome cases develop when an individual has Laura Yarram-Smith a deletion of the RBM8A gene (chromosome 1q21.1) on one [email protected] chromosome and a RBM8A hypomorphic SNP on the other allele.Two RBM8A hypomorphic SNPs have been identified, that Sample Required: when in trans with an RBM8A deletion account for approximately 96% Adult: 5mls blood in EDTA of TAR syndrome cases (Nat Genet. 2012 Feb 26;44(4):435-9). Paediatric: at least 1ml EDTA . A minority of TAR syndrome cases are explained by a null mutation in (preferably >2ml). Given possible the RBM8A gene in trans with a RBM8A hypomorphic SNP on the difficulties in obtaining blood other allele. In deletion negative cases point mutation analysis of the samples from these patients a entire coding region of RBM8A gene can be completed.
    [Show full text]
  • Absent Radius (TAR) Syndrome
    orphananesthesia Anaesthesia recommendations for patients suffering from Thrombocytopenia- Absent Radius (TAR) syndrome Disease name: Thrombocytopenia- Absent Radius (TAR) syndrome ICD 10: Q87.2 Synonyms: Absent radii and thrombocytopenia, Thrombocytopenia absent radii, Thrombocytopenia absent radius syndrome, Radial Aplasia Amegakaryocytic Thrombocytopenia, Radial Aplasia Thrombocytopenia Syndrome, Radial Aplasia- Amegakaryocytic Thrombocytopenia, TAR Syndrome. Thrombocytopenia- absent radius syndrome is an uncommon congenital malformation condition characterized by bilateral absence of the radii with the presence of thumbs, and congenital thrombocytopenia. The syndrome is phenotypically variable. It is inherited in an autosomal recessive pattern caused by a 200kb deletion including or null mutation of RBM8A on one chromosome and a non-coding polymorphism in RBM8A on the other chromosome. The estimated prevalence is between 0.5- 1:100,000 and 1:240, 000 births. It affects both sexes equally. Over 150 cases have been previously reported. Medicine in progress Perhaps new knowledge Every patient is unique Perhaps the diagnostic is wrong Find more information on the disease, its centres of reference and patient organisations on Orphanet: www.orpha.net 1 Disease summary The combination of thrombocytopenia and absent radii was first described by Greenwald and Sherman in 1929, and delineated as a syndrome with a description of cardinal manifestations by Hall et al in 1969 [1,2]. The most common clinical features are: Thrombocytopenia (100%) - symptomatic in over 90% of the cases within the first four months of life. Platelet counts are usually in the range of 15 - 30x109/L in infancy and improve to almost normal range by adulthood. The thrombocytopenia is thought to be secondary to impaired bone marrow production of platelets, despite normal thrombopoetin production and slightly elevated serum levels.The number of megakaryocytes in the bone marrow is strongly reduced.
    [Show full text]
  • Chromosomal Microarray, Postnatal, Clarisure® Oligo-SNP
    Diagnostic Services Pediatrics Test Summary Chromosomal Microarray, Postnatal, ClariSure® Oligo-SNP The American College of Medical Genetics (ACMG) Test Code: 16478(X) recommends CMA testing as a first-line genetic test for developmental delay, intellectual disability, ASDs, and Specimen Requirements: 10 mL room-temperature whole multiple congenital anomalies.2,4 This recommendation blood (sodium-heparin, green-top tube); 5 mL minimum is based, in part, on a literature review that included over 21,000 patients with developmental delay/intellectual CPT Code*: 81229 disability, ASDs, or multiple congenital anomalies. The diagnostic yield was 15% to 20% for CMA testing versus ~3% for G-banded karyotyping and ~6% for subtelomeric Clinical Use fluorescence in situ hybridization (FISH) in combination • Determine the genetic etiology of developmental with G-banded karyotyping.5 In individuals with complex delay, intellectual disability, autism spectrum disorders ASDs, CMA testing can result in a diagnostic yield of over (ASDs; pervasive developmental disorders), and 25%.2 ACMG still considers karyotyping a first-line test multiple congenital anomalies when patients are suspected of having a recognizable • Confirm or exclude the diagnosis of known chromosomal syndrome such as trisomy 21 or 18, Turner chromosomal syndromes syndrome, or Klinefelter syndrome.2,4 • Further define ambiguities arising from cytogenetic The oligonucleotide-single nucleotide polymorphism or FISH studies (oligo-SNP) array contains over 2.6 million probes and • Assist in clinical management and genetic counseling covers regions of known and likely CNVs. It can confirm the diagnosis of suspected disorders associated with known Clinical Background chromosomal syndromes and is especially well suited Global developmental delay, intellectual disability (mental for determining the genetic cause of less well-described retardation), ASDs, and multiple congenital anomalies may disorders.
    [Show full text]
  • Appendix 8: Approved Established Risk Conditions for Babynet
    Appendix 8: Approved Established Risk Conditions for BabyNet Federal regulations for BabyNet define an infant or toddler with a disability as an individual under three years of age who needs early intervention services because…the individual has a diagnosed physical or mental condition that has a high probability of resulting in developmental delay. Examples include conditions such as chromosomal abnormalities; genetic or congenital disorders; sensory impairments; inborn errors of metabolism; disorders reflecting disturbance of the development of the nervous system; congenital infections; severe attachment disorders; and disorders secondary to exposure to toxic substances, including fetal alcohol syndrome. (34 CFR §303.21) ICD-9 ICD-10 Condition or Diagnosis Code Code 10p13A3:A91 Deletion 758.39 Q93.- 10q26.11-13 Deletion Syndrome 758.39 Q93.- 11q Deletion (Jacobson's Syndrome) 758.39 Q93.- 13q Syndrome 758.39 Q93.- 18q Deletion Syndrome 758.39 Q93.- 3Q39 758.39 Q93.- 49xxxxy Syndrome (Multiple x Chromosome Syndrome) 758.39 Q93.- 4p Minus Syndrome 758.39 Q93.- 6p Minus Syndrome 758.39 Q93.- 6q Minus Syndrome 758.39 Q93.- 7q Minus Syndrome 758.39 Q93.- 8p Chromosome Deletion 758.39 Q93.- Ageneis of the Corpus Callosum 758.39 Q04.- Albinism 742.2 E70.- Amniotic Band Syndrome 270.2 P02.- Amyoplasia Congenita Disruptive Sequence 658.8 Q79.- Anencephaly 756.89 Q00.- Angelman Syndrome 655 Q93.- Anophthalmia 759.89 Q11.- Argininosuccinate Lyase Deficiency 743 E72.- Argininosuccinic Aciduria 270.6 E72.- Arthrogryposis 270.6 Q74.- Asphyxia/Hypoxic
    [Show full text]
  • An Interesting Case of Phocomelia
    International Journal of Reproduction, Contraception, Obstetrics and Gynecology Lavanya C et al. Int J Reprod Contracept Obstet Gynecol. 2020 Feb;9(2):866-870 www.ijrcog.org pISSN 2320-1770 | eISSN 2320-1789 DOI: http://dx.doi.org/10.18203/2320-1770.ijrcog20200396 Case Report An interesting case of Phocomelia C. Lavanya1*, T. Ramani Devi2, D. Gayathri3 1Department of Obstetrics and Gynecology, Malar hospital, Trichy, Tamil Nadu, India 2Department of Obstetrics and Gynecology, Ramakrishna Medical Centre LLP and Janani Fertility Centre, Trichy, Tamil Nadu, India 3Department of Obstetrics and Gynecology, Ramakrishna Medical Centre LLP, Trichy, Tamil Nadu, India Received: 25 September 2019 Revised: 21 December 2019 Accepted: 27 December 2019 *Correspondence: Dr. C. Lavanya, E-mail: [email protected] Copyright: © the author(s), publisher and licensee Medip Academy. This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ABSTRACT Authors present a very rare case of tetra-phocomelia evaluated by antenatal ultrasonography. It is a condition seen in 0.62 per 100,000 live births. This is a congenital chromosomal abnormality involving the musculoskeletal system. Primi gravida with spontaneous conception after a long period of infertility underwent early anomaly scan. Patient was not aware of the last menstrual period hence; NT scan was missed. Routine early anomaly scan done between 16- 18 weeks of pregnancy diagnosed a fetus with Tetra-Phocomelia. Due to the lack of associated symptoms or significant history, our case did not fit into any specific syndrome and appears to be the result of a sporadic, non- hereditary limb deficiency involving all four limb buds.
    [Show full text]
  • Prenatal Detection of TAR Syndrome in a Fetus with Compound Inheritance of an RBM8A SNP and a 334‑Kb Deletion: a Case Report
    MOLECULAR MEDICINE REPORTS 9: 163-165, 2014 Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: A case report IOANNIS PAPOULIDIS1, EIRINI OIKONOMIDOU1, SANDRO ORRU2, ELISAVET SIOMOU1, MARIA KONTODIOU1, MAKARIOS ELEFTHERIADES3, VASILIOS BACOULAS4, JUAN C. CIGUDOSA5, JAVIER SUELA5, LORETTA THOMAIDIS6 and EMMANOUIL MANOLAKOS1,2 1Laboratory of Genetics, Eurogenetica S.A., Thessaloniki 55133, Greece; 2Department of Medical Genetics, University of Cagliari, Binaghi Hospital, Cagliari I‑09126, Italy; 3Embryocare, Fetal Medicine Unit, Athens 11522; 4Fetal Medicine Centre, Athens 10674, Greece; 5NIMGenetics, Madrid 28049, Spain; 6Department of Pediatrics, Aglaia Kyriakou Children's Hospital, University of Athens, Athens 11527, Greece Received May 30, 2013; Accepted October 16, 2013 DOI: 10.3892/mmr.2013.1788 Abstract. Thrombocytopenia-absent radius syndrome identified the presence of a minimally deleted 200‑kb region (TAR) is a rare genetic disorder that is characterized by the at chromosome band 1q21.1 in patients with TAR, but it is not absence of the radius bone in each forearm and a markedly sufficient to cause the phenotype (3,4). A study identified two reduced platelet count that results in life-threatening bleeding rare single nucleotide polymorphisms (SNPs) in the regulatory episodes (thrombocytopenia). Tar syndrome has been associ- region of the RBM8A gene that are involved in TAR syndrome ated with a deletion of a segment of 1q21.1 cytoband. The through the reduction of the expression of the RBM8A-encoded 1q21.1 deletion syndrome phenotype includes Tar and other Y14 protein (4). The first allele (rs139428292 G>A), which is features such as mental retardation, autism and microcephaly.
    [Show full text]