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Prenatal exclusion of X‐linked hydrocephalus‐stenosis of the aqueduct of sylvius sequence using closely linked DNA markers by Françoise Serville; Paule Benit; Pascale Saugier; Mireille Vibert; Ghislaine Royer; Anna Pelet; Michèle Chery; Arnold Munnich; Stanislas Lyonnet is a Medicine article available to read on EtoBox.

What is Prenatal exclusion of X‐linked hydrocephalus‐stenosis of the aqueduct of sylvius sequence using closely linked DNA markers about?

## 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.

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Author

Françoise Serville; Paule Benit; Pascale Saugier; Mireille Vibert; Ghislaine Royer; Anna Pelet; Michèle Chery; Arnold Munnich; Stanislas Lyonnet

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley; Research Square (ISSN 0197-3851)

Published

1993

Language

EN

Field

Medicine (Health Sciences)