Article
Phenotypic and cytogenetic spectrum of 9p trisomy.
Genetic counseling (Geneva, Switzerland) - 1 Jan 2007
Temtamy S A, Kamel A K, Ismail S, Helmy N A, Aglan M S, El Gammal M, El Ruby M, Mohamed A M
Abstract excerpt
Trisomy 9p is one of the most frequent autosomal anomalies compatible with long survival rate. The spectrum of clinical severity in trisomy 9 roughly correlates with the extent of trisomic chromosome material. Trisomy 9p is a clinically well delineated syndrome and of all stigmata craniofacial dysmorphism is most specific. In this study we report five cases with de novo trisomy 9p. The study aimed at the...
Topics
- Abnormalities, Multiple
- Child
- Child, Preschool
- Chromosome Banding
- Chromosomes, Human, Pair 9
- Cytogenetic Analysis
- Female
- Genotype
- Humans
- Infant
- Karyotyping