✦ LIBER ✦

Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3)

✍ Scribed by Kenji Kurosawa; Miki Tanoshima-Takei; Toshiyuki Yamamoto; Hiroshi Ishikawa; Mitsuo Masuno; Yukichi Tanaka; Michiko Yamanaka

Book ID: 114825192
Publisher: John Wiley and Sons
Year: 2012
Tongue: English
Weight: 819 KB
Volume: 52
Category: Article
ISSN: 0914-3505
DOI: 10.1111/j.1741-4520.2011.00326.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Asperger syndrome in a boy with a balanc

Asperger syndrome in a boy with a balanced de novo translocation: t(17;19)(p13.3;p11)

✍ Annerén, Göran ;Dahl, Niklas ;Uddenfeldt, Ulrika ;Janols, Lars-Olof 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 125 KB 👁 2 views

## Letter to the Editor Asperger Syndrome in a Boy With a Balanced De Novo Translocation: t( 17; 19)(p13.3;pll)

Partial trisomy 3q due to a de novo tran

Partial trisomy 3q due to a de novo translocation t(X;3) (p21;q12)

✍ J. W. E. OORTHUYS; R. M. SLATER; H. BARROWCLOUGH; M. J. K. DE KLEINE 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 316 KB

Isolated bilateral anophthalmia in a gir

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2)

✍ Driggers, Rita W.; Macri, Charles J.; Greenwald, Jeffrey; Carpenter, David; Aval 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 9 KB 👁 3 views

Primary anophthalmos is a heterogeneous condition. In its nonsyndromal form, it is usually considered an autosomal recessive trait. However, other causes such as chromosomal abnormalities and prenatal insults need to be considered. We report on a unique reciprocal translocation 46,XX,t(3;11)(q27;p11

West Syndrome in a Patient with Balanced

West Syndrome in a Patient with Balanced Translocation t(X;18)(p22;p11.2)

✍ Shie Akabori; Tomoyuki Takano; Hiroshi Fujito; Yoshihiro Takeuchi 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 595 KB

Tuberous sclerosis in a child with de no

Tuberous sclerosis in a child with de novo translocation t(3; 12) (p26.3; q23.3)

✍ R. Fahsold; H.-D. Rott; U. Claussen; B. Schmalenberger 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB

Congenital scoliosis (hemivertebra) asso

Congenital scoliosis (hemivertebra) associated with de novo balanced reciprocal translocation, 46,XX,t(13;17)(q34;p11.2)

✍ Imaizumi, Kiyoshi; Masuno, Mitsuo; Ishii, Takuma; Kuroki, Yoshikazu; Okuzumi, Na 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 10 KB 👁 3 views

We report on an 8-year-old girl with congenital scoliosis (segmented hemivertebra between the second and third lumbar vertebrae) and psychomotor developmental delay. She has a de novo reciprocal translocation, t(13;17)(q34;p11.2). Congenital scoliosis is one type of structural spine deformation and