✦ LIBER ✦

18p Monosomy syndrome

✍ Scribed by Henry A. Kane; Digamber Borgaonkar; Matthew McDermott; Stuart Septimus; Hamid Movahhedian

Publisher: Springer
Year: 1991
Tongue: English
Weight: 57 KB
Volume: 12
Category: Article
ISSN: 0172-0643
DOI: 10.1007/bf02238424

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Partial monosomy 10p syndrome

✍ J. M. Klep-de Pater; J. B. Bijlsma; F. M. J. Alkema 📂 Article 📅 1981 🏛 Springer 🌐 English ⚖ 454 KB

Monosomy 1p36 deletion syndrome

✍ Marzena Gajecka; Katherine L. Mackay; Lisa G. Shaffer 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 317 KB

9p trisomy/18p distal monosomy and multi

9p trisomy/18p distal monosomy and multiple cutaneous leiomyomata

✍ J. P. Fryns; M. Haspeslagh; A. Mûelenaere; H. Berghe 📂 Article 📅 1985 🏛 Springer 🌐 English ⚖ 827 KB

In this report a severely mentally retarded adult female with 9p trisomy/18pter monosomy is described. In addition to a 9p trisomy phenotype this patient presented with multiple cutaneous leiomyomata. The question is raised whether the concurrence of the chromosomal anomaly and the multiple skin tum

Familial del(18p) syndrome

✍ Tsukahara, Masato ;Imaizumi, Kiyoshi ;Fujita, Kyoko ;Tateishi, Hiroshi ;Uchida, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 118 KB

Distal monosomy 18p/distal trisomy 20p?A

Distal monosomy 18p/distal trisomy 20p?A recognizable facial phenotype?

✍ Wieczorek, Dagmar ;Bartsch, Oliver ;Gillessen-Kaesbach, Gabriele 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 129 KB 👁 1 views

## Abstract We describe an 8.5‐year‐old boy with facial dysmorphism consisting of a round and flat face, telecanthus, periorbital fullness, short nose, downturned corners of the mouth, and micrognathia. In addition, profound mental retardation, tetralogy of Fallot, and renal dysplasia were present.

Childhood monosomy 7 syndrome

✍ Martin Gyger; Yvette Bonny; Lorraine Forest 📂 Article 📅 1982 🏛 John Wiley and Sons 🌐 English ⚖ 492 KB