Thrombocytopenia and cleft hand in monosomy 21. Genetic counseling (Geneva, Switzerland) [Genet Couns] Journal article

Title	Thrombocytopenia and cleft hand in monosomy 21.
Author(s)	Vogels A, de Smet L, van den Berghe H, Fryns JP
Institution	Centre for Human Genetics, University of Leuven, Belgium.
Source	Genet Couns 1994; 5(1):67-71.
MeSH	Abnormalities, Multiple Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 21 Hand Deformities, Congenital Humans Male Mental Retardation Mosaicism Phenotype Platelet Count Thrombocytopenia
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.
Language	eng
Pub Type(s)	Case Reports Journal Article
PubMed ID	8031538

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