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Tightly linked polymorphic markers for fragile X syndrome and prenatal cytogenetic diagnostic experience

✍ Scribed by Glass, IA ;Mastro, RG Del ;Lanyon, WG ;Raeburn, JA ;Kilpatrick, MW ;Webb, Tp ;Connor, JM

Book ID: 102700927
Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 546 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430632

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✦ Synopsis

Abstract

Linkage analysis using the polymorphic loci DXS369, DXS296, DXS297 and DXS306 was carried out on a cohort of 17 families segregating for fragile X syndrome. The observed recombination fractions at: DXS369 (Zmax = 3. 02; theta=0. 06), DXS297 (Zmax= 2. 92; theta = 0.0), DXS296 (Zmax = 3. 82; theta = 0.0), DXA306 (Zmax = 4. 55; theta = 0.05) confirm that these loci are tightly linked to FRAXA. Our experience in the cytogenetic analysis of 58 at risk pregnancies by chorionic villus or fetal blood sample examination documents a false negative rate in obligate carrier male pregnancies for CVS of 11% and for FBS of 3%.

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