Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of sylvius sequence using closely linked DNA markers |
| |
| Authors: | Françoise Serville Paule Benit Pascale Saugier Mireille Vibert Ghislaine Royer Anna Pelet Michèle Chery Arnold Munnich Stanislas Lyonnet |
| |
| Institution: | 1. Unité de Génétique, CHU de Bordeaux, Hôpital Pellegrin, 33076 Bordeaux, France;2. Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-12 et Laboratoire de Diagnostic Prénatal Moléculaire, Hôpital des Enfants-Malades, 149 rue de Sèvres, 75743 Paris Cedex 15 France;3. Consultation de Génétique, Maternité de l'Hôpital Sainte-Croix, 57045 Metz Cedex, France;4. Laboratoire de Génétique du CRTS de Nancy, 54511 Vandoeuvre-les-Nancy Cedex, France |
| |
| Abstract: | 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. |
| |
| Keywords: | X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence Prenatal diagnosis DNA markers |
|
|
