Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter
β Scribed by H.L. Archer; S. Gupta; S. Enoch; P. Thompson; A. Rowbottom; I. Chua; S. Warren; D. Johnson; D.H. Ledbetter; C. Lese-Martin; P. Williams; D.T. Pilz
- Publisher
- John Wiley and Sons
- Year
- 2005
- Tongue
- English
- Weight
- 172 KB
- Volume
- 136A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of them share a number of manifestations, such as mental retardation, microcephaly, pre-and post-natal growth retardation, anteverted and low-set ears, that can be considered as no
We report on a 4-month-old boy with a de novo interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and clinical findings typical of proximal 3p deletion together with coloboma of iris, heart defect, choanal atresia, retardation of growth and development, genital hypoplas