Refined localization of the Prieto-syndrome locus

Journal Article · Fri Jul 12 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960712)64:1<82::AID-AJMG14>3.0.CO;2-O· OSTI ID:476914

Martinez, F; Prieto, F ^[1]; Gal, A ^[2]

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1. Unidad de Genetica, Valencia (Spain)
2. Universitaets-Krankenhaus Eppendorf, Hamburg (Germany)

PRS designates the locus for a syndromal form of X-linked mental retardation (Prieto syndrome) characterized by minor facial anomalies, ear malformation, abnormal growth of teeth, clinodactyly, sacral dimple, patellar luxation, malformation of lower limbs, abnormalities of the fundus of the eye, and subcortical cerebral atrophy. Linkage analysis localized the disease locus between DXS84 (Xp21.1) and DXS255. Here we present additional linkage data that provide further support and refinement of this localization. Individual III-18 gave birth to a male, currently aged 2 7/12 years, who clearly shows delayed psychomotor development. He began to walk at 23 months and his speech is delayed. In addition, he shows the characteristic facial anomalies, {open_quotes}dysplastic{close_quotes} ears, sacral dimple, and clinodactyly, as do all other affected males in this family. 7 refs., 1 tab.

• OSTI ID: 476914
• Journal Information: American Journal of Medical Genetics, Vol. 64, Issue 1; Other Information: PBD: 12 Jul 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN X CHROMOSOME
GENETIC MAPPING
RESOLUTION
MENTAL DISORDERS
GENETICS
PATIENTS
HEREDITARY DISEASES
PHENOTYPE
CONGENITAL MALFORMATIONS
GENES
STATISTICS
BIOLOGICAL MARKERS