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EARLY PRENATAL DIAGNOSIS OF FANCONI ANAEMIA IN A TWIN PREGNANCY, USING DNA ANALYSIS

✍ Scribed by M. L. KWEE; J. R. LO TEN FOE; F. ARWERT; G. PALS; K. MADAN; A. NIEUWINT; P. A. IN 'T VELD; A. R. VAN DER HORST; J. M. G. VAN VUGT; L. P. TEN KATE

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 422 KB
Volume: 16
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199604)16:4<345::aid-pd852>3.0.co;2-9

No coin nor oath required. For personal study only.

✦ Synopsis

We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a compound heterozygote, carrying a 322delG and a IVS4+4A-+T mutation in the FAC gene. Prenatal DNA analysis showed that both fetuses were heterozygous for different mutations in the FAC gene. Both fetuses had normal male karyotypes. At 36 weeks the twins were born. They did not show congenital anomalies.

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