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Prenatal diagnosis of fragile X syndrome: Results from parallel molecular and cytogenetic studies

✍ Scribed by Murphy, Patricia D. ;Wilmot, Patrick L. ;Shapiro, Lawrence R.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 366 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430130

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Since 1985, we have provided coordinated DNA‐based and cytogenetic prenatal analysis for couples at risk for offspring afflicted with the fragile X [fra(X)] syndrome. To date, 40 pregnancies have been studied (22 males, 18 females). There were 5 males and 3 females identified to be at high risk by DNA but only 2 males and one female were demonstrated to be cytogenetically expressing the fra(X) prenatally. Of the other 3 males, one was a cytogenetic false negative (i.e. confirmed fra(X)+ at termination of pregnancy). The other 2 remain fra(X)‐ and are developing normally (undetected recombinants or non‐penetrat male carriers). All fetuses at low risk were carried to term and are reported to be normal.

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