𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1–9q33.1 deletion in a girl with a cleft lip and palate

✍ Scribed by Shu-Chin Chien; Yueh-Chun Li; Ling-Hui Li; Jer-Yuarn Wu; Pei-Ching Hsu; Sue-Lin Shi; Fuu-Jen Tsai; Chyi-Chyang Lin

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
178 KB
Volume
152A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

✦ Synopsis

A new familial insertion, ins(18;9)(q12.2;q33.1q31.1) with a 9q31.1-9q33.1 deletion in a girl with a cleft lip and palate.

📜 SIMILAR VOLUMES

Rare interstitial deletion 9q31.2 to q33
Rare interstitial deletion 9q31.2 to q33.1 de novo: Longitudinal study in a patient over a period of more than 20 years
✍ Ulrike Gamerdinger; Thomas Eggermann; Regine Schubert; Gesa Schwanitz; Martina K 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 355 KB 👁 1 views

## Abstract The female carrier of a de novo interstitial deletion 9q [karyotype 46,XX,del(9)(q31.2q33.1)] was followed up over a period of more than 20 years. She shows facial dysmorphisms and significant growth retardation. Motor abilities are restricted by muscular hypotonia and malposition of th

Monosomy 18q syndrome and atypical Rett
Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)
✍ Gustavsson, Peter; Kimber, Eva; Wahlstr�m, Jan; Anner�n, G�ran 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 3 views

We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defin