𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

✍ Scribed by Annerén, Göran ;Dahl, Niklas ;Uddenfeldt, Ulrika ;Janols, Lars-Olof

Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
125 KB
Volume
56
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

Letter to the Editor

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

📜 SIMILAR VOLUMES

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

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

Rubinstein-Taybi syndrome caused by a de
Rubinstein-Taybi syndrome caused by a de novo reciprocal translocation t(2;16)(q36.3;p13.3)
✍ Petrij, Fred; Dorsman, Josephine C.; Dauwerse, Hans G.; Giles, Rachel H.; Peeter 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB

## Rubinstein -Taybi syndrome (RTS) is a multiple congenital anomalies and mental retardation syndrome characterized by facial abnormalities, broad thumbs, and broad big toes. We have shown previously that disruption of the human CREB-binding protein (CBP) gene, either by gross chromosomal rearrang

Translocation t(X;21)(q13.3; p11.1) in a
Translocation t(X;21)(q13.3; p11.1) in a girl with Menkes disease
✍ Sugio, Yoshitsugu; Sugio, Yoko; Kuwano, Akira; Miyoshi, Osamu; Yamada, Kohki; Ni 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 21 KB 👁 2 views

A girl with a 46,X,t(X;21) (q13.3;p11.1) karyotype presented with skin redundancy, especially in the neck, prominent occiput and micrognathia, and later developed hypotonia, hypopigmentation, sparse scalp hair, and profound mental retardation characteristic of Menkes disease. Her serum copper (14 mi