- 期刊
Six Cases of Deletion 9p24 and Trisomy 19q13.4 Inherited from a Familial Balanced Translocation
遺傳自家族平衡轉位染色體之第9封染色體短臂缺失症及第19封染色體長臂三染色體症
並列摘要
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.
延伸閱讀
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