Article
Familial deletion of (8)(q24.13q24.22) associated with a normal phenotype.
Clinical genetics - 1 Nov 2001
Batania J R, Morris K, Ma E, Huang Y, McComb J
Abstract excerpt
We report a familial deletion of (8q) detected in amniocytes of a fetus with a normal ultrasound and in the phenotypically normal mother, who has now had three pregnancy losses. Chromosome analysis of amniocytes and maternal peripheral blood cells showed an interstitial deletion of (8)(q24.13q24.22), which is distal to the region associated with Langer-Giedion syndrome (LGS) or trichorhinophalangeal (TRP)...
Topics
- Adult
- Chromosomes, Human, Pair 8
- Female
- Fetal Death
- Gene Deletion
- Humans
- Phenotype
- Pregnancy