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Anterior chamber eye anomalies, redundant skin and syndactyly - a new syndrome associated with breakpoints at 2q37.2 and 7q36.3
被引：0
|作者：
Temple, IK
Browne, C
Hodgkins, P
机构：
[1] Univ Southampton Hosp Trust, Princess Anne Hosp, Wessex Clin Genet Serv, Southampton SO16 5YA, Hants, England
[2] Salisbury Hlth Care Trust, Wessex Reg Genet Lab, Salisbury SP2 8BJ, Wilts, England
[3] Southampton Univ Hosp Trust, Southampton Eye Hosp, Dept Ophthalmol, Southampton SO16 6YD, Hants, England
关键词：
Rieger anomaly;
anterior chamber eye anomaly;
syndactyly;
redundant skin;
polycystic ovaries;
2q37;
7q36;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ;
090102 ;
摘要：
We report a 34-year-old female with a de novo balanced reciprocal translocation involving 2q37.2 and 7q36.3. She has a unique combination of multiple congenital malformations that include redundant skin, complete tissue syndactyly of the hands and feet, hirsutism, polycystic ovaries and bilateral anterior chamber eye anomalies. Her son has inherited the unbalanced product (46,XY,der(2) t(2;7)(q37.2;q36.3). He has a similar clinical picture with additional features including complex congenital heart disease, post axial polydactyly, hypotonia and global developmental delay. The breakpoints may indicate the location of the gene(s) responsible for this unique combination of features. Clin Dysmorphol 8: 157-163 (C) 1999 Lippincott Williams & Wilkins.
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页码：157 / 163
页数：7
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