Vogels A, de Smet L, van den Berghe H, Fryns JP
Thrombocytopenia and cleft hand in monosomy 21. [Case Reports, Journal Article]
Genet Couns 1994; 5(1):67-71.
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.
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