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Prenatal detection of a fetus hemizygous for the fragile X-chromosome

✍ Scribed by Angela Schmidt; E. Passarge; Eva Seemanová; M. Macek

Publisher
Springer
Year
1982
Tongue
English
Weight
211 KB
Volume
62
Category
Article
ISSN
0340-6717

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Amniocentesis on a 32-year-old woman at risk for trisomy 21 by maternal serum triple screen showed a 46,Y,inv(X) (p22.1q24) karyotype in all cells analyzed. A blood sample was obtained from the mother for cytogenetic evaluation. Since she had the same inversion, DNA replication studies were performe