Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13--implications for cytogenetics and molecular biology.
We report on a female with a interstitial deletion of 10p13 and a phenotype similar to that seen with the 22q deletion syndromes (DiGeorge/velo-cardio-facial). She had a posterior cleft palate, perimembranous ventricular septal defect, dyscoordinate swallowing, T-cell subset abnormalities, small ears, maxillary and mandibular hypoplasia, broad nasal bridge, deficient alae nasi, contractures of fingers and developmental delay. This could indicate homology of some developmental genes at 22q and 10p so that patients with the velocardiofacial phenotype who do not prove to be deleted on 22q are candidates for a 10p deletion.
Lipson
A
A
Department of Clinical Genetics, Royal Alexandra Hospital for Children, Sydney, Australia.
Fagan
K
K
Colley
A
A
Colley
P
P
Sholler
G
G
Issacs
D
D
Oates
R K
RK
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10; D004062:DiGeorge Syndrome / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D010641:Phenotype