✦ LIBER ✦

Origin of a paternal (13q; 15q) translocation leading to dup(13q) in two half sibs

✍ Scribed by De Los Cobos, Luis F. ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 1983
Tongue: English
Weight: 334 KB
Volume: 14
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320140404

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A cryptic unbalanced translocation resul

A cryptic unbalanced translocation resulting in del 13q and dup 15q

✍ Alexandra Tészás; Rikke S. Møller; Richard Kellermayer; Márta Czakó; Klaus W. Kj 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 111 KB 👁 1 views

Prader-Willi syndrome due to 15q11-q13 d

Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation

✍ Alliende, Angélica ;Curotto, Bianca ;Maria, Lorena Santa ;Cortés, Fanny ;Aracena 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 57 KB 👁 1 views

Dandy-Walker complex in a boy with a 5 M

Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33)

✍ Martin Poot; Hester Y. Kroes; Suzanne E. v. d. Wijst; Marc J. Eleveld; Liesbeth 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 227 KB 👁 1 views

Maternal origin of 15q11-13 deletions in

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting

✍ Williams, C. A. ;Zori, R. T. ;Stone, J. W. ;Gray, B. A. ;Cantu, E. S. ;Ostrer, H 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 493 KB 👁 1 views

Rare interstitial deletion (2)(p11.2p13)

Rare interstitial deletion (2)(p11.2p13) in a child with pericentric inversion (2)(p11.2q13) of paternal origin

✍ Lacbawan, Felicitas L.; White, Beverly J.; Anguiano, Arturo; Rigdon, David T.; B 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 1 views

An unbalanced 46,XY,der(2)del(2)(p11.2p13) inv(2)(p11.2q13) karyotype was found in a phenotypically abnormal child with a de novo interstitial deletion of band 2p12 associated with an inv(2)(p11.2q13) inherited from the father. The inv(2) is generally considered a benign familial variant without sig

Fusion of a novel gene, ELKS, to RET due

Fusion of a novel gene, ELKS, to RET due to translocation t(10;12)(q11;p13) in a papillary thyroid carcinoma

✍ Tomoko Nakata; Yutaka Kitamura; Kazuo Shimizu; Shigeo Tanaka; Minoru Fujimori; S 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 144 KB

In papillary thyroid carcinomas, the genes for receptor-type tyrosine kinase, RET or TRKA, are sometimes rearranged, resulting in fusion of its tyrosine kinase domain to 5Ј portions of several activating genes. In a papillary thyroid carcinoma, we identified a novel gene (ELKS), the 5Ј portion of wh