✦ LIBER ✦

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

✍ Scribed by Abidi, Fatima; Hall, Bryan D.; Cadle, Ronald G.; Feldman, Gerald L.; Lubs, Herbert A.; Ouzts, Lizbeth V.; Arena, J. Fernando; Stevenson, Roger E.; Schwartz, Charles E.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 82 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990730)85:3<223::aid-ajmg8>3.0.co;2-r

No coin nor oath required. For personal study only.

✦ Synopsis

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 males. Affected males are shorter and have a smaller head circumference. Several also have a sloping forehead (5/8), hearing loss (3/8), cupped ears (2/8), and small testes (4/6). An LOD score of 4.41 with zero recombination was obtained at locus DXS1166 in Xq13.2. This family highlights the difficulty in classifying XLMR conditions as either nonsyndromic or syndromic because of the variable somatic manifestations observed in the affected males. Am.

📜 SIMILAR VOLUMES

Mapping of a gene (MRXS9) for X-linked m

Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31

✍ Shrimpton, Antony E.; Daly, Kathleen M.; Hoo, Joe J. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 84 KB 👁 1 views

Three boys from two families were identified as having a syndrome of X-linked mental retardation (XLMR) with microcephaly and short stature, clinically resembling Renpenning syndrome but with normal size of testicles in affected men. When the effort to map the gene for the above condition was initia

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

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 characteristic ?coarse? facial appearance, brachydactyly, and short stature maps to proximal Xq

✍ Carpenter, Nancy J.; Qu, Yong; Curtis, Mary; Patil, Shivanand R. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 1 views

We describe a three-generation family in which X-linked mental retardation (XLMR) is associated with minor facial anomalies and brachydactyly. Two brothers and four nephews have "coarse" facial appearance, brachydactyly with widening of the distal phalanges, short stature, and moderate mental retard

X-linked mental retardation associated w

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

✍ Siderius, Liesbeth E.; Hamel, Ben C.J.; van Bokhoven, Hans; de Jager, Frank; van 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB

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

X-linked mental retardation syndrome wit

X-linked mental retardation syndrome with seizures, hypogammaglobulinemia, and progressive gait disturbance is regionally mapped between Xq21.33 and Xq23

✍ Chudley, Albert E.; Tackels, D.C.; Lubs, Herbert A.; Arena, J. Fernando; Stoeber 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 75 KB 👁 1 views

We identified a family with three males in two generations with moderate mental retardation. The two oldest were first cousins whose mothers were sisters. The third affected was a grandson through a daughter of one of the sisters, strongly suggesting Xlinked inheritance. The affected males had promi