✦ LIBER ✦

A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17

✍ Scribed by Marketa Havlovicova; Drahuse Novotna; Eduard Kocarek; Kamila Novotna; Sarka Bendova; Borivoj Petrak; Michal Hrdlicka; Zdenek Sedlacek

Book ID: 101449339
Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 168 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31569

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Chromosome 17 loss-of-heterozygosity stu

Chromosome 17 loss-of-heterozygosity studies in benign and malignant tumors in neurofibromatosis type 1

✍ Sonja A. Rasmussen; Jennifer Overman; Susanne A.M. Thomson; Steven D. Colman; Co 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 158 KB 👁 1 views

Mutational analysis and expression studi

Mutational analysis and expression studies of the neurofibromatosis type 2 (NF2) gene in a patient with a ring chromosome 22 and NF2

✍ H. Kehrer-Sawatzki; Martin Udart; Winfrid Krone; Reinhard Baden; Raimund Fahsold 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 115 KB

Duplication of part of chromosome 17 is

Duplication of part of chromosome 17 is commonly associated with hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease type 1)

✍ P. J. Hallam; A. E. Harding; J. Berciano; D. F. Barker; Dr S. Malcolm 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 477 KB 👁 3 views

Hereditary motor and sensory neuropathy type I (HMSNI), also known as Charcot-Marie-Tooth disease type 1 (CMTl), has been shown to be genetically heterogeneous. A major gene maps to chromosome 17 (CMTlA). A set of loci, D17S122, D17S125, and D17S124, show tight linkage to the C M T l A locus, and a

Localization of the 17q breakpoint of a

Localization of the 17q breakpoint of a constitutional 1;17 translocation in a patient with neuroblastoma within a 25-kb segment located between the ACCN1 and TLK2 genes and near the distal breakpoints of two microdeletions in neurofibromatosis type 1 patients

✍ Nadine Van Roy; Jo Vandesompele; Geert Berx; Katrien Staes; Mireille Van Gele; E 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 213 KB

## Abstract We have constructed a 1.4‐Mb P1 artificial chromosome/bacterial artificial chromosome (PAC/BAC) contig spanning the 17q breakpoint of a constitutional translocation t(1;17)(p36.2;q11.2) in a patient with neuroblastoma. Three 17q breakpoint‐overlapping cosmids were identified and sequenc