𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Distinct phenotype associated with a cryptic subtelomeric deletion of 19p13.3-pter

✍ 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.


πŸ“œ SIMILAR VOLUMES


?Tandem? duplication of 4p16.1p16.3 chro
✍ Zollino, M.; Wright, T.J.; Di Stefano, C.; Tosolini, A.; Battaglia, A.; Altherr, πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 29 KB πŸ‘ 1 views

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

A patient with interstitial deletion of
✍ Wieczorek, Dagmar; Bolt, Jan; Schwechheimer, Karl; Gillessen-Kaesbach, Gabriele πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 317 KB πŸ‘ 3 views

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