Article
Phenotypic variability of del(2) (q22-q23): report of a case with a review of the literature.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1994
Lurie I W, Supovitz K R, Rosenblum-Vos L S, Wulfsberg E A
Abstract excerpt
An interstitial deletion of 2q22-q23 was found in a 2.5 year old boy with multiple congenital abnormalities (including Hirschsprung's disease) and severe mental retardation. Comparison with seven additional cases of 2q deletions from the literature does not allow the delineation of a clinically r...
Topics
- Abnormalities, Multiple
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 2
- Chromosomes, Human, Pair 9
- Genetic Carrier Screening
- Genetic Variation
- Heart Septal Defects, Atrial
- Hirschsprung Disease
- Humans
- Intellectual Disability
- Male
- Phenotype