✦ LIBER ✦

Mapping the breakpoint of a constitutional translocation on chromosome 22 in a patient with NF2

✍ Scribed by Eiko Arai; Takashi Tokino; Takashi Imai; Johji Inazawa; Tatsuro Ikeuchi; Akira Tonomura; Yusuke Nakamura

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 316 KB
Volume: 6
Category: Article
ISSN: 1045-2257
DOI: 10.1002/gcc.2870060408

No coin nor oath required. For personal study only.

✦ Synopsis

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterized by development of bilateral acoustic neurinomas and increased incidence nf meningiomas. Frequent losses of I allele of chromosome 22 in neurinomas and meningiomas has indicated that the gene responsible for NF2 functions as a tumor suppressor. Although the NF2 gene has been mapped within a I 3 cM region between D22S I and D22S28 by linkage analysis, its location with respect to D22S I 5 is uncertain. We previously reported an NF2 patient with a constitutional balanced translocation t(4;22) (q 12q 12.2); the NF2 gene is probably disrupted at the breakpoint. To define the location of this breakpoint on chromosome 22, we performed fluorescence in situ hybridization (FISH) with D N A markers in the NF2 region and determined the physical order of 5 loci: D22SI-NF2-LIF-0225 I5-D22S32. Genes Chrom Cancer 6235-238 (1993). 0 I993 Wiley-Liss, Inc.

📜 SIMILAR VOLUMES

Refinement and delineation of the breakp

Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome*

✍ Maróti, Zoltán ;Kutsche, Kerstin ;Sutajova, Marketa ;Gal, Andreas ;Nothwang, Han 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 124 KB 👁 3 views

Mapping of the 8q23 translocation breakp

Mapping of the 8q23 translocation breakpoint of t(8;13) observed in a patient with multiple exostoses

✍ Koh-Ichiro Yoshiura; Johji Inazawa; Kumiko Koyama; Dr. Yusuke Nakamura; Norio Ni 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 395 KB

K.Y., N.N.), Japan A detailed cytogenetic map was constructed around the chromosomal breakpoint of t(8 I 3) observed in a patient with multiple exostores. The order of seven loci defined by cosmid clones mapped to 8q23 was determined by means of two-color fluorescence in situ hybridization (FISH) on

Distribution of breakpoint within the br

Distribution of breakpoint within the breakpoint cluster region (bcr) in chronic myelogenous leukemia with a complex philadelphia chromosome translocation

✍ Hikari Nishigaki; Johji Inazawa; Shinichi Misawa; Kazuhiro Nishida; Tsukasa Okud 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 443 KB 👁 3 views

Severe phenotype of neurofibromatosis ty

Severe phenotype of neurofibromatosis type 2 in a patient with a 7.4-MB constitutional deletion on chromosome 22: Possible localization of a neurofibromatosis type 2 modifier gene?

✍ Carl E.G. Bruder; Koichi Ichimura; Elisabeth Blennow; Tatsuro Ikeuchi; Takekane 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 186 KB

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder predisposing to multiple neoplastic lesions with the hallmark of schwannoma arising at the eighth cranial nerve. NF2 shows a distinct clinical variability, with a mild and a severe form of the disease. The NF2 gene is mutated in consti

A de novo balanced translocation breakpo

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

✍ Xin-Li Huang; Ying S. Zou; Tom A. Maher; Stephanie Newton; Jeff M. Milunsky 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 65 KB 👁 1 views

New approach for the refinement of the l

New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

✍ M. García-Hoyos; R. Sanz; D. Diego-Álvarez; I. Lorda-Sánchez; M.J. Trujillo-Tieb 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 3 views