Article
Del (X)(p21.2) in a mother and two daughters with variable ovarian function.
Clinical genetics - 1 Oct 1997
Zinn A R, Ouyang B, Ross J L, Varma S, Bourgeois M, Tonk V
Abstract excerpt
We report a family in which a woman with the mosaic karyotype 45,X/46,X,del(X)(p21.2) transmitted the deleted X chromosome to two daughters. The nature of the deletion was confirmed by fluorescent in situ hybridization (FISH). All three family members showed somatic Ullrich-Turner syndrome featur...
Topics
- Abnormalities, Multiple
- Adult
- Child
- Chromosome Aberrations
- Chromosome Deletion
- Chromosome Disorders
- Disease Susceptibility
- Dwarfism
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Menopause, Premature
- Mosaicism
- Otitis Media
- Ovary
- Phenotype
- Recurrence