✦ LIBER ✦

De novo translocation t(5;6)(q35;q21) in an infant with Walker-Warburg syndrome

✍ Scribed by Karadeniz, Nilüfer ;Zenciroğlu, Ayşegül ;Gürer, Y.K. Yavuz ;Şenbil, Nesrin ;Karadeniz, Yasemin ;Topalŏlu, Haluk

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 170 KB
Volume: 109
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.10286

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Sotos syndrome associated with a de novo

Sotos syndrome associated with a de novo balanced reciprocal translocation t(5;8)(q35;q24.1)

✍ Imaizumi, Kiyoshi ;Kimura, Junko ;Matsuo, Mari ;Kurosawa, Kenji ;Masuno, Mitsuo 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 99 KB 👁 2 views

## Abstract We describe a de novo balanced reciprocal translocation between the long arms of chromosomes 5 and 8 [46,XX,t(5;8)(q35;q24.1)] in a 15‐month‐old girl with a typical Sotos syndrome phenotype. Involvement of the 5q35 region was previously reported (Maroun et al. [1994: Am J Med Genet 50:2

Balanced double complex translocations [

Balanced double complex translocations [46,XX,t(1p;6p;7p;3q;11p)(11q;22p;21q)] in an infant with multiple congenital anomalies

✍ Fukushima, Yoshimitsu ;Kuroki, Yoshikazu ;Ito, Taizo ;Opitz, John M. ;Reynolds, 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 376 KB 👁 1 views

De novo three-way chromosome translocati

De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia

✍ Smita M. Purandare; Roberto Mendoza-Londono; Svetlana A. Yatsenko; Dobrawa Napie 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 295 KB 👁 1 views

Severe, neonatal-onset OTC deficiency in

Severe, neonatal-onset OTC deficiency in twin sisters with a de novo balanced reciprocal translocation t(X;5)(p21.1;q11)

✍ Martin Zenker; Bendicht Wermuth; Udo Trautmann; Ina Knerr; Cornelia Kraus; Anita 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 1 views