𝔖 Bobbio Scriptorium
✦   LIBER   ✦

6q1 monosomy: a distinctive syndrome

✍ Scribed by Catherine Turleau; Gérard Demay; Marie-Odille Cabanis; Gérard Lenoir; Jean de Grouchy

Book ID
115089697
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
375 KB
Volume
34
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Monosomy 6q1: Syndrome delineation
Monosomy 6q1: Syndrome delineation
✍ Romie, Susan Sheley; Hartsfield, James K.; Sutcliffe, Maxine J.; Dumont, Doris P 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 35 KB 👁 2 views

W e report on a girl with a de novo 6ql interstitial deletion. To our knowledge, this is the second reported case with a deletion of 6q11-15. W e review the phenotype of monosomy 6ql. Our patient has manifestations similar to others with monosomy 6ql including mental deficiency, growth retardation,

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