✦ LIBER ✦

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

✍ Scribed by Siderius, Liesbeth E.; Hamel, Ben C.J.; van Bokhoven, Hans; de Jager, Frank; van den Helm, Bellinda; Kremer, Hannie; Heineman-de Boer, Josien A.; Ropers, Hans-Hilger; Mariman, Edwin C.M.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 46 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990730)85:3<216::aid-ajmg6>3.0.co;2-x

No coin nor oath required. For personal study only.

✦ Synopsis

A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at =0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval of 25 cM. Am.

📜 SIMILAR VOLUMES

Increasing evidence for a new X-linked m

Increasing evidence for a new X-linked mental retardation/epilepsy gene localized to Xp21.3-Xp22.1

✍ Bruy�re, H.; Lewis, M.E.S.; Wood, S.; MacLeod, P.; Langlois, S. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 2 KB 👁 1 views

We read with interest the article, published recently in this journal by Ronce et al. [1999] describing three generations of a French family segregating with a syndromal form of X-linked mental retardation (XLMR) characterized by hypotonia, intractable seizures, and severe mental deficiency. We wish

X-linked mental retardation with variabl

X-linked mental retardation with variable stature, head circumference, and testicular volume linked to Xq12-q21

✍ Abidi, Fatima; Hall, Bryan D.; Cadle, Ronald G.; Feldman, Gerald L.; Lubs, Herbe 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 82 KB 👁 2 views

Clinical and molecular studies are reported on a family with X-linked mental retardation (XLMR) in which there are eight affected males in three generations. Although the males have somatic manifestations, these are variable and in most cases do not allow clear distinction of affected and unaffected

Regional localization of two genes for n

Regional localization of two genes for nonspecific X-linked mental retardation to Xp22.3–p22.2 (MRX49) and Xp11.3–p11.21 (MRX50)

✍ Claes, S.; Vogels, A.; Holvoet, M.; Devriendt, K.; Raeymaekers, P.; Cassiman, J. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 1 views

Two families with nonspecific X-linked mental retardation (XLMR) are presented. In the first family, MRX49, 5 male patients in 2 generations showed mild to moderate mental retardation. Two-point linkage analysis with 28 polymorphic markers, dispersed over the X-chromosome, yielded a maximal LOD scor

Psychometric assessment of families with

Psychometric assessment of families with X-linked mental retardation

✍ Roosmalen, Tanja van; Smits, Arie P.T.; Thoonen, Geert H.J.; Hamel, Ben C.J.; As 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

As part of an integrated approach to DNAlinkage analysis in X-linked mental retardation (XLMR), 29 members of five families suspected of having XLMR underwent psychometric assessment. Mental retardation was confirmed in all participants. The range of mental retardation varied from mild to profound w

X-linked mental retardation syndrome wit

X-linked mental retardation syndrome with short stature, small hands and feet, seizures, cleft palate, and glaucoma is linked to Xq28

✍ Armfield, Kim; Nelson, Retecher; Lubs, Herbert A.; H�ne, Bernhard; Schroer, Rich 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 51 KB 👁 1 views

Of the gene-rich regions of the human genome, Xq28 is the most densely mapped. Mutations of genes in this band are responsible for 10 syndromal forms of mental retardation and 5 nonsyndromal forms. Clinical and molecular studies reported here add an additional syndromic form of X-linked mental retar

Gene for apparently nonsyndromic X-linke

Gene for apparently nonsyndromic X-linked mental retardation (MRX32) maps to an 18-Mb region of Xp21.2-p22

✍ H�ne, Bernhard; Stevenson, Roger E.; Arena, J. Fernando; Lubs, Herbert A.; Simen 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 45 KB 👁 1 views

We studied a family with 11 males having X-linked mental retardation (XLMR) using microsatellite markers. Aside from the mental retardation, the affected males do not appear to differ from their unaffected brothers or uncles. The gene for this XLMR condition has been linked to DXS451 in Xp22.13 with