The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.
We report a family in which the proband has a direct insertion of band 7q21.3 into chromosome 22 at 22q13.3, karyotype 46,XX,dir ins(22;7)(q13.3;q21.2q22.1). Two of her children have unbalanced chromosome rearrangements involving 7q21.3, with one girl monosomic for the region and a boy trisomic for the region. The child monosomic for band 7q21.3 has a split hand/split foot (SHSF) anomaly and her clinical features are consistent with the 7q21-q22 contiguous gene deletion syndrome. In situ hybridisation studies have shown that the proband and her son have a submicroscopic deletion of chromosome band 22q13.3. Interstitial deletions of this chromosome band have rarely been reported.
Slavotinek
A
A
Department of Clinical Genetics, Oxford Radcliffe Hospital, The Churchill, UK.
Maher
E
E
Gregory
P
P
Rowlandson
P
P
Huson
S M
SM
D000328:Adult; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002897:Chromosomes, Human, Pair 7; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype