✦ LIBER ✦

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome

✍ Scribed by Probst, Frank J. ;Hedera, Peter ;Sclafani, Anthony M. ;Pomponi, Maria Grazia ;Neri, Giovanni ;Tyson, Jessica ;Douglas, Julie A. ;Petty, Elizabeth M. ;Martin, Donna M.

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 68 KB
Volume: 131A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.30308

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Skewed X-inactivation in carriers establ

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome (Am J Med Genet 131A: 209–212)

✍ Frank J. Probst; Peter Hedera; Anthony M. Sclafani; Maria Grazia Pomponi; Giovan 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views

Non-skewed X-inactivation may cause ment

Non-skewed X-inactivation may cause mental retardation in a female carrier of X-linked α-thalassemia/mental retardation syndrome (ATR-X): X-inactivation study of nine female carriers of ATR-X

✍ Takahito Wada; Hideo Sugie; Yoshimitsu Fukushima; Shinji Saitoh 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 60 KB 👁 1 views

X-linked alpha-thalassemia/mental retardation syndrome (ATR-X) is a syndromic form of X-linked mental retardation. We investigated the X-inactivation status of nine female ATR-X carriers by methylation-specific PCR of the HUMARA gene. Six carriers demonstrated a skewed X-inactivation pattern (>90:10

Inheritance of skewed X chromosome inact

Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome

✍ Ørstavik, Karen Helene; Elise Ørstavik, Ragnhild; Eiklid, Kristin; Tranebjærg, L 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 3 views

A new X-linked recessive deafness syndrome was recently reported and mapped to Xq22 (Mohr-Tranebjaerg syndrome). In addition to deafness, the patients had visual impairment, dystonia, fractures, and mental deterioration. The female carriers did not have any significant manifestations of the syndrome

Normal male carriers in the fra(X) form

Normal male carriers in the fra(X) form of X-linked mental retardation (Martin—Bell syndrome)

✍ Froster-Iskenius, U. ;McGillivray, B. C. ;Dill, F. J. ;Hall, J. G. ;Herbst, D. S 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 447 KB 👁 2 views

Use of linkage data obtained in single f

Use of linkage data obtained in single families: Prenatal diagnosis of a new X-linked mental retardation syndrome

✍ Mulley, John C. ;Gedeon, Agi K. ;Wilson, Sue ;Haan, Eric A. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 381 KB 👁 1 views