Thrombocytopenia and cleft hand in monosomy 21

A Vogels; L de Smet; H van den Berghe; J P Fryns

Thrombocytopenia and cleft hand in monosomy 21

Genet Couns. 1994;5(1):67-71.

Authors

A Vogels¹, L de Smet, H van den Berghe, J P Fryns

Affiliation

¹ Centre for Human Genetics, University of Leuven, Belgium.

PMID: 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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Child, Preschool
Chromosome Deletion*
Chromosomes, Human, Pair 21*
Hand Deformities, Congenital / diagnosis
Hand Deformities, Congenital / genetics*
Hand Deformities, Congenital / surgery
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Male
Mosaicism
Phenotype
Platelet Count
Thrombocytopenia / diagnosis
Thrombocytopenia / genetics*