Thrombocytopenia and cleft hand in monosomy 21.
作者信息
Vogels A, de Smet L, van den Berghe H, Fryns J P
机构信息
Centre for Human Genetics, University of Leuven, Belgium.
出版信息
Genet Couns. 1994;5(1):67-71.
PMID:8031538
Abstract
In this report we describe the hitherto unreported association of cleft hand, thrombocytopenia, facial dysmorphism and mild mental retardation in a 3-year-old boy with 45, XY, -21/46, XY/46, XY, del(21)(p11) karyotype. A review is given of the occurrence of cleft hand in several types of chromosomal rearrangements e.g. deletions and translocations.
摘要
Zotero 插件