Article
A unique case of female pseudohermaphroditism with 21-hydroxylase deficiency and small supernumerary marker chromosome 7.
Molecular medicine reports - 1 May 2013
Al-Achkar Walid, Wafa Abdulsamad, Assaad Manar, Ehlers Christian, Liehr Thomas
Abstract excerpt
Small supernumerary marker chromosomes (sSMCs) are present in ~2.6x10⁶ individuals worldwide. Concerning their clinical consequences as well as their chromosomal origin and shape, sSMCs are a heterogeneous group of derivative chromosomes; 70% of sSMC carriers are clinically normal. In the present study, we report on a female with mosaicism (45%) of a de novo sSMC derived from chromosome 7, in which the observed...
Topics
- 46, XX Disorders of Sex Development
- Adrenal Glands
- Adult
- Base Sequence
- Child
- Child, Preschool
- Chromosome Banding
- Chromosomes, Human, Pair 7
- Cytogenetic Analysis
- Exons
- Facies
- Female
- Genetic Markers
- Homozygote