✦ LIBER ✦

Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomalies

✍ Scribed by Riegel, Mariluce ;Morava, Eva ;Czak�, Marta ;Kosztol�nyi, Gy�rgy ;Schinzel, Albert

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 130 KB
Volume: 102
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1455

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

De novo deletion of 1q24.3-q31.2 in a pa

De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation

✍ Akira Nishimura; Yoko Hiraki; Hiroko Shimoda; Gen Nishimura; Hiromi Tadaki; Yosh 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB 👁 2 views

First report of an interstitial deletion

First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies

✍ Jill K. Northup; Kären E. Wain; Judy C. Hawkins; Reuben Matalon; Gopalrao V.N. V 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB

Subtelomere FISH in 50 children with men

Subtelomere FISH in 50 children with mental retardation and minor anomalies, identified by a checklist, detects 10 rearrangements including a de novo balanced translocation of chromosomes 17p13.3 and 20q13.33

✍ Walter, Sabine ;Sandig, Klaus ;Hinkel, Georg K. ;Mitulla, Beate ;Ounap, Katrin ; 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 352 KB 👁 1 views