Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The deletion 9p with trisomy 19q syndrome is a rare disorder. We report 2 adults and 4 children with deletion 9p and trisomy 19q due to familial balanced 9p;19q translocation with clinical features suggestive of monosomy 9p. The children had dysmorphic features and psychomotor retardation while the adults were self-sufficient but worked in a sheltered environment. High-resolution chromosome analysis and fluorescence in situ hybridization confirmed that the 6 cases of unbalanced translocation, der(9)t(9;19)(p24.1;q13.4) were inherited from a balanced translocation carrier, t(9;19)(p24.1;q13.4). The dysmorphic features included trigonocephaly, small nose with stunted tip, and long philtrum. Associated anomalies included wide-set nipples, extra finger flexion creases, hernia, external genitalia hypoplasia, scoliosis, and hypopigmented skin patch. We suggest that genetic counseling is necessary for those who have family members with dysmorphic features and/or major anomalies and/or psychomotor retardation.
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PMID:Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation. 1609 33