Novel X-linked mental retardation syndrome with short stature maps to Xq24

Emilia Vitale, Claudia Specchia, Marcella Devoto, Andrea Angius, Sun Rong, Mariano Rocchi, Marvin Schwalb, Luisa Demelas, Daniela Paglietti, Salvatorica Manca, Camillo Mastropaolo, Gigliola Serra

Research output: Contribution to journalArticlepeer-review


We describe a large family from Sardinia, Italy, in which a novel X- linked mental retardation (XLMR) syndrome segregates. The phenotype observed in the 8 affected males includes severe mental retardation (MR), lack of speech, coarse face, distinctive skeletal features with short stature, brachydactyly of fingers and toes, small downslanting palpebral fissures, large bulbous nose, hypoplastic ear lobe and macrostomia. Carrier females are not mentally retarded, although some of them have mild dysmorphic features such as minor ear lobe abnormalities, as well as language and learning problems. Linkage analysis for Xchromosome markers resulted in a maximum lod score of 3.61 with marker DXS1001 in Xq24. Recombination observed with flanking markers identified a region of 16 cM for further study. None of the other XLMR syndromes known to map in the same region shows the same composite phenotype. This evidence strongly suggests that the genetic disease in this family is unique.

Original languageEnglish
Pages (from-to)1-8
Number of pages8
JournalAmerican Journal of Medical Genetics
Issue number1
Publication statusPublished - Sep 15 2001


  • Linkage
  • Syndromic
  • X-linked mental retardation

ASJC Scopus subject areas

  • Genetics(clinical)

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