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Prenatal exclusion of X‐linked hydrocephalus‐stenosis of the aqueduct of sylvius sequence using closely linked DNA markers
Author(s) -
Serville Françoise,
Benit Paule,
Saugier Pascale,
Vibert Mireille,
Royer Ghislaine,
Pelet Anna,
Chery Michèle,
Munnich Arnold,
Lyonnet Stanislas
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970130603
Subject(s) - hydrocephalus , prenatal diagnosis , macrocephaly , xq28 , medicine , asymptomatic , stenosis , obstetrics , fetus , pediatrics , pregnancy , locus (genetics) , pathology , genetics , surgery , biology , gene
X‐linked hydrocephalus‐stenosis of the aqueduct of Sylvius sequence (H‐SAS, MIM number 307 000) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, mental retardation, and cerebral malformations. This regularly lethal condition is usually diagnosed at birth or prenatally by ultrasound, but hydrocephalus may be moderate or even undetectable on fetal ultrasound examination. Moreover, since heterozygous women are asymptomatic, carrier detection is at present impossible before the birth of an affected son. Therefore, mapping the H‐SAS locus to distal Xq (Xq28) was of primary importance for genetic counselling and prenatal diagnosis. Here, we report prenatal exclusion of H‐SAS with a probability of 97.6 per cent in two male fetuses with a 50 per cent a priori risk of being affected using closely linked Xq28 DNA markers.