✦ LIBER ✦

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features

✍ Scribed by Marie-Reine Haddad; Cécile Mignon-Ravix; Pierre Cacciagli; André Mégarbané; Laurent Villard

Book ID: 116433187
Publisher: Elsevier Science
Year: 2009
Tongue: English
Weight: 496 KB
Volume: 52
Category: Article
ISSN: 1769-7212
DOI: 10.1016/j.ejmg.2009.04.002

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Characterization of a de novo balanced t

Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation

✍ Kenichiro Yamada; Daisuke Fukushi; Takao Ono; Yoko Kondo; Reiko Kimura; Noriko N 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 358 KB 👁 2 views

De novo unbalanced translocation 2;4 cha

De novo unbalanced translocation 2;4 characterized by metaphase CGH and array CGH in a child with mental retardation and dysmorphic features

✍ A. Debost-Legrand; Y. Capri; L. Gouas; C. Pebrel-Richard; L. Veronese; A. Tchirk 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 367 KB

De novo duplication of MECP2 in a girl w

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features

✍ P Makrythanasis; I Moix; S Gimelli; J Fluss; K Aliferis; SE Antonarakis; MA Morr 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 791 KB

De novo Xq11.11 microdeletion including

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

✍ Gaetan Lesca; Marianne Till; Audrey Labalme; Dominique Vallee; Catherine Hugonen 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 688 KB

De novo double translocation 3;13 and 4;

De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities

✍ Battisti, C. ;Bonaglia, M.C. ;Giglio, S. ;Anichini, C. ;Pucci, L. ;Dotti, M.T. ; 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 170 KB 👁 2 views

A novel 1.4 Mb de novo microdeletion of

A novel 1.4 Mb de novo microdeletion of chromosome 1q21.3 in a child with microcephaly, dysmorphic features and mental retardation

✍ Sujana Reddy; Natalia Dolzhanskaya; Jacquelyn Krogh; Milen Velinov 📂 Article 📅 2009 🏛 Elsevier Science 🌐 English ⚖ 453 KB