Article
Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature.
Clinical genetics - 1 Jan 1992
Sarda P, Lefort G, Taviaux S, Humeau C, Rieu D
Abstract excerpt
We describe the case of a female infant with multiple congenital anomalies who was found to have a de novo distal intestinal del (1) (q32 q42). The clinical features of other reports of similar deletions are briefly reviewed. No characteristic phenotype seems to be as yet definable due to the limited number of cases published.
Topics
- Abnormalities, Multiple
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 1
- Female
- Heart Septal Defects
- Humans
- Hypertelorism
- Infant, Newborn
- Joints
- Microcephaly