✦ LIBER ✦

13q33.2 deletion: a rare cause of ambiguous genitalia in a male newborn with growth restriction

✍ Scribed by JH Andresen; S Aftimos; E Doherty; DR Love; M Battin

Book ID: 114816410
Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 274 KB
Volume: 99
Category: Article
ISSN: 0803-5253
DOI: 10.1111/j.1651-2227.2010.01683.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Molecular cytogenetic analysis of a de n

Molecular cytogenetic analysis of a de novo interstitial deletion of chromosome 10q (q25.3q26.13) in a male child with ambiguous genitalia: Evidence for a new critical region for genital development

✍ Veronica Mardo; Elizabeth E. Squibb; Nancy Braverman; Julie E. Hoover-Fong; Clau 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 220 KB 👁 2 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

A patient with the classic features of P

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region

✍ Simenson, Kristi; Õiglane-Shlik, Eve; Teek, Rita; Kuuse, Kati; Õunap, Katrin 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 695 KB