Article
Thrombocytopenia and cleft hand in monosomy 21.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
Vogels A, de Smet L, van den Berghe H, Fryns J P
Abstract excerpt
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 chromoso...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 21
- Hand Deformities, Congenital
- Humans
- Intellectual Disability
- Male
- Mosaicism
- Phenotype
- Platelet Count
- Thrombocytopenia