Article
Recurrent adjacent-2 segregation of a familial t(14;21)(q11.2;q11.2): phenotypic comparison of two brothers and a paternal aunt inheriting the der(14).
American journal of medical genetics. Part A - 15 Jan 2005
Chen Emily, Choe Michele A, Loughman William D, Covert Susan, Bitts Sheila, Rowe Amy, Beischel Linda, Johnson John P
Abstract excerpt
A 14-year-old boy was referred for a genetics evaluation after high-resolution chromosome analysis showed a small amount of extra material in the proximal long arm of chromosome 21. Five years prior, his karyotype analysis was interpreted as normal with a variant chromosome 21. The patient has short palpebral fissures, strabismus, flat antihelices of the ears, long thumbs with bilaterally absent interphalangeal...
Topics
- Adult
- Child
- Chromosome Banding
- Chromosome Segregation
- Chromosomes, Human, Pair 14
- Chromosomes, Human, Pair 21
- Family Health
- Female
- Humans
- In Situ Hybridization, Fluorescence
- Karyotyping
- Male
- Meiosis