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
Novel X-linked mental retardation syndrome with short stature maps to Xq24
β Scribed by Vitale, Emilia ;Specchia, Claudia ;Devoto, Marcella ;Angius, Andrea ;Rong, Sun ;Rocchi, Mariano ;Schwalb, Marvin ;Demelas, Luisa ;Paglietti, Daniela ;Manca, Salvatorica ;Mastropaolo, Camillo ;Serra, Gigliola
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 344 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0148-7299
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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
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
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