𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD

✍ Scribed by Fortunato Lonardo; Giancarlo Parenti; Daniela Varela Luquetti; Ida Annunziata; Matteo Della Monica; Lucia Perone; Manuela De Gregori; Orsetta Zuffardi; Nicola Brunetti-Pierri; Generoso Andria; Gioacchino Scarano


Book ID
116433038
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
519 KB
Volume
50
Category
Article
ISSN
1769-7212

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


An interstitial deletion in Xp22.3 in a
✍ Christine Petit; Judith Melki; Jacqueline Levilliers; FranΓ§oise Serville; Jean W πŸ“‚ Article πŸ“… 1990 πŸ› Springer 🌐 English βš– 783 KB

In a four-generation family, chondrodysplasia punctata was found in a boy and one of his maternal uncles. These two patients also have short stature, as do all female members of the family, DNA molecular analysis of the pseudoautosomal and Xp22.3-specific loci revealed the presence of an interstitia

A patient with an interstitial deletion
✍ Albrecht Klink; Alfons Meindl; Heide Hellebrand; Gudrun A. Rappold πŸ“‚ Article πŸ“… 1994 πŸ› Springer 🌐 English βš– 797 KB

A male patient carrying an interstitial deletion in Xp22.3 and affected by Kallmann syndrome, X-linked ichthyosis and mental retardation, but without chondrodysplasia punctata or short stature, was investigated with molecular probes from the distal Xp22.3 region. By means of a novel probe, M115, fro

Mental retardation in a boy with an inte
✍ Muroya, Koji; Ogata, Tsutomu; Matsuo, Nobutake; Nagai, Toshiro; Franco, Brunella πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 527 KB

Although genotype-phenotype correlations in male patients with various types of nullisomy for Xp22.3 have assigned a locus for Xlinked mental retardation (MRX) to an approximately 3-Mb region between DXS31 and STS, the precise location has not been determined. In this paper, we describe a 1 4 7 / ~~