Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a familial partial trisomy 12q in a girl and her father both of whom have an unbalanced translocation, der(16)t(12;16)(q24.31;q24.3), resulting in trisomy 12q24.31 --> qter and 16q subtelomere deletion. By comparing phenotypes of the girl and the father, we suggest that clinical features related to trisomy 12q24.31 --> qter are mild development delays, mild mental retardation, broad forehead, simplified ear helices, small mouth, and thin lips. The mother who has a normal karyotype has moderate mental retardation and a facial appearance similar to the girl. Both the girl and the mother have distinctive short, curly, and kinky hair. We suspect a possible new syndrome in the maternal family with mental retardation and curly, kinky hair. Thus, this patient likely inherited two discreet conditions causing mental retardation.
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PMID:A girl with partial trisomy 12q24.31 inherited from her father and a possible novel syndrome transmitted from her mother. 1622 78

We report on a patient with partial monosomy 6p and partial trisomy 12q identified by fluorescent in situ hybridization (FISH) and array-based comparative genomic hybridization (aCGH). She had a complex phenotype characterized by mental retardation (MR), psychomotor developmental delay, speech disorder, hypertelorism, eye anomalies, hearing loss, low-set malformed ears, thin upper lip, heart defect, clinodactyly, pes valgus, and skeletal anomalies. There is phenotypic overlap between our case and Mutchinick syndrome. This is the first report of a combined partial monosomy 6p and partial trisomy 12q due to an unbalanced translocation between subtelomeric regions of these chromosomes.
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PMID:Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome. 2057 31