✦ LIBER ✦

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome

✍ Scribed by Finelli, Palma ;Giardino, Daniela ;Russo, Silvia ;Gottardi, Giulietta ;Cogliati, Francesca ;Grugni, Graziano ;Natacci, Federka ;Larizza, Lidia

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 270 KB
Volume: 99
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1181

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Cytogenetic and molecular analysis of a

Cytogenetic and molecular analysis of a t(1;22)(p36;q11.2) in a rhabdoid tumor with a putative homozygous deletion of chromosome 22

✍ Christophe Rosty; Martine Peter; Jessica Zucman; Pierre Validire; Olivier Delatt 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 281 KB 👁 1 views

Malignant rhabdoid tumors are rare and aggressive neoplasms of childhood, occurring in the kidney or in various extrarenal locations. Most cytogenetic studies of these tumors have shown the frequent involvement of chromosome 22, including translocations and/or deletions, with a critical region for a

Interstitial deletion of 1p22.2p31.1 and

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay

✍ Gustavo H.B. Maegawa; Nicola K. Poplawski; Brage Storstein Andresen; Simon E. Ol 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 139 KB

## Abstract We report on a 6‐year‐old girl who presented at 6 months of age with seizures, delayed psychomotor development and mild facial dysmorphism. A small muscular ventricular septal defect was documented on echocardiogram and brain MRI showed a frontal brain anomaly. Urine organic acid analys

Cytogenetic and array CGH characterizati

Cytogenetic and array CGH characterization of de novo 1p36 duplications and deletion in a patient with congenital cataracts, hearing loss, choanal atresia, and mental retardation

✍ Emily Chen; Elise Obolensky; Katherine A. Rauen; Lisa G. Shaffer; Xu Li 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 255 KB 👁 1 views

Array-CGH in a series of 30 patients wit

Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome

✍ P. Callier; L. Faivre; C. Thauvin-Robinet; N. Marle; A.L. Mosca; P. D'Athis; J. 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 353 KB 👁 1 views

Inversion of chromosome 11, inv(11)(p15q

Inversion of chromosome 11, inv(11)(p15q22), as a recurring chromosomal aberration associated with de novo and secondary myeloid malignancies: Identification of a P1 clone spanning the 11q22 breakpoint

✍ Hirofumi Kobayashi; Yasuhito Arai; Fumie Hosoda; Nobuo Maseki; Yasuhide Hayashi; 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 147 KB

We studied four patients with inv(11)(p15q22) associated with malignant myeloid diseases by using fluorescence in situ hybridization (FISH) with phage and cosmid probes mapped and ordered on 11q22-24. Two of the four patients had non-Hodgkin's lymphoma or acute lymphoblastic leukemia as the primary