Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13--implications for cytogenetics and molecular biology.
Am J Med Genet
; 65(4): 304-8, 1996 Nov 11.
Article
in En
| MEDLINE
| ID: mdl-8923940
ABSTRACT
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.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Chromosomes, Human, Pair 10
/
Chromosome Aberrations
/
Chromosome Disorders
/
DiGeorge Syndrome
Limits:
Female
/
Humans
/
Infant
Language:
En
Journal:
Am J Med Genet
Year:
1996
Document type:
Article
Affiliation country:
Australia