Article
Primary ovarian failure and deletions of the long arm of chromosome 3.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Oct 2005
Nguyen ThiThuyAn, McDonnell Ciara M, Zacharin Margaret R
Abstract excerpt
A 14 year-old girl was found to have a deletion of the distal segment of chromosome 3 [46,XX,Del(3)(q28-29)]. The main features of this presentation were mild intellectual disability, facial dysmorphism, short stature, kypho-scoliosis, and primary ovarian failure, an association that has not been described before in association with chromosome 3 deletion. The phenotype and presentation are compared with those of...
Topics
- Adolescent
- Body Height
- Chromosome Deletion
- Chromosome Disorders
- Chromosomes, Human, Pair 3
- Female
- Humans
- Kyphosis
- Phenotype
- Primary Ovarian Insufficiency
- Scoliosis
- Syndrome
