Aplasia cutis congenita with chromosome 12q abnormality.
نویسندگان
چکیده
A 32 week, small for dates baby with aplasia cutis congenita had an unbalanced translocation, being monosomic for distal 12q and trisomic for distal 1q. As far as is known, the association between extensive skin defects and a chromosomal abnormality has not been reported before. Keratin genes have been located in a different area of 12q, but this case may indicate other candidate areas to explore. Karyotyping should be undertaken in all babies with aplasia cutis.
منابع مشابه
Aplasia cutis congenita: a case report
Aplasia cutis congenita is the congenital absence of skin mostcommonly affecting the scalp. No definite etiology is available butmultiple causes such as intrauterine infection, fetal exposure tococaine, heroin, alcohol or antithyroid drugs, vascular disruption,genetic causes, syndromes and teratogens have been suggested.We present an infant with extensive aplasia cutis of the trunk andthigh. He...
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ورودعنوان ژورنال:
- Archives of disease in childhood. Fetal and neonatal edition
دوره 72 3 شماره
صفحات -
تاریخ انتشار 1995