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Thrombocytopenia and cleft hand in monosomy 21
A Vogels1, L de Smet, H van den Berghe
1Centre for Human Genetics, University of Leuven, Belgium.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1994
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.