Novel X-linked mental retardation syndrome with short stature maps to Xq24.
Am J Med Genet
; 103(1): 1-8, 2001 Sep 15.
Article
em En
| MEDLINE
| ID: mdl-11562927
ABSTRACT
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 X-chromosome 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.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Transtornos do Crescimento
/
Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Estados Unidos