Article
Thrombocytopenia and cleft hand in monosomy 21.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
Vogels A, de Smet L, van den Berghe H, Fryns J P
Abstract excerpt
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.
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.