Thrombocytopenia and cleft hand in 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.
Centre for Human Genetics, University of Leuven, Belgium.
A
A
Vogels
L
L
de Smet
H
H
van den Berghe
J P
JP
Fryns
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D010976:Platelet Count; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics*