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Pubmed for Handhelds

PUBMED FOR HANDHELDS

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  • Title: Thrombocytopenia and cleft hand in monosomy 21.
    Author: Vogels A, de Smet L, van den Berghe H, Fryns JP.
    Journal: Genet Couns; 1994; 5(1):67-71. PubMed ID: 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.
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