Rare Diseases Symptoms Automatic Extraction

Thrombocytopenia and cleft hand in monosomy 21.

[monosomy 21]

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.

Diseases presenting "cleft hand" symptom

  • kabuki syndrome
  • monosomy 21

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