✦ LIBER ✦

De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature

✍ Scribed by M.D. Perrone; M.S. Rocca; I. Bruno; F. Faletra; V. Pecile; P. Gasparini

Book ID: 116433436
Publisher: Elsevier Science
Year: 2012
Tongue: English
Weight: 552 KB
Volume: 55
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2011.11.004

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Multiple exostoses, mental retardation,

Multiple exostoses, mental retardation, hypertrichosis, and brain abnormalities in a boy with a de novo 8q24 submicroscopic interstitial deletion

✍ Wuyts, Wim ;Roland, Dominique ;Lüdecke, Hermann-Josef ;Wauters, Jan ;Foulon, Mar 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 235 KB 👁 2 views

De novo 1Mb interstitial deletion of 8p2

De novo 1Mb interstitial deletion of 8p22 in a patient with slight mental retardation and speech delay

✍ Piovani, Giovanna; Savio, Giulia; Traversa, Michele; Pilotta, Alba; De Petro, Gi 📂 Article 📅 2014 🏛 BioMed Central 🌐 English ⚖ 233 KB

Deletion of the CUL4B gene in a boy with

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

✍ Bertrand Isidor; Olivier Pichon; Sabine Baron; Albert David; Cédric Le Caignec 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 213 KB 👁 2 views

Interstitial deletion of the short arm o

Interstitial deletion of the short arm of chromosome 4 in a boy with mild psychomotor retardation and dysmorphism

✍ Tatsuya Ishikawa; Satoshi Sumi; Shinji Fujimoto; Yasuko Shima; Yoshiro Wada 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 294 KB

De novo 6.9 Mb interstitial deletion on

De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features

✍ Antonella Fabretto; Maria Santa Rocca; Maria Dolores Perrone; Aldo Skabar; Vanna 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 155 KB

De novo pericentric inversion of chromos

De novo pericentric inversion of chromosome 4, inv(4)(p16q12) in a boy with piebaldism and mental retardation

✍ Ramadevi, A. Radha ;Naik, Usha ;Dutta, Usha ;Srikanth, ;Prabhakara, K. 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 116 KB 👁 2 views