Article
Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment.
American journal of medical genetics - 15 Jun 1991
Halal F, Vekemans M, Chitayat D
Abstract excerpt
We report on a girl with a previously undescribed de novo direct tandem duplication 4q involving the segment q23----q27. Clinical manifestations included postnatal growth and psychomotor retardation, microcephaly, hirsute forehead, epicanthic folds, strabismus, depressed nasal bridge, long philtrum, small mouth, tetralogy of Fallot, and sacral dimple. Her phenotype is compared with that of previously reported...
Topics
- Aspartylglucosylaminase
- Chromosome Mapping
- Chromosomes, Human, Pair 4
- Female
- Follow-Up Studies
- Genes
- Humans
- Infant, Newborn
- Multigene Family
- Pedigree
- Phenotype