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i(18q) IN AMNIOTIC AND FETAL CELLS WITH A NORMAL KARYOTYPE IN DIRECT CHORIONIC VILLUS SAMPLING: CYTOGENETICS AND PATHOLOGY

✍ Scribed by A. LEVY-MOZZICONACCI; C. PIQUET; C. SCHEINER; J. ADRAI; A. POTIER; M. C. PELISSIER; N. PHILIP

Book ID: 102650203
Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 1004 KB
Volume: 16
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199612)16:12<1156::aid-pd13>3.0.co;2-k

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✦ Synopsis

A case of false-negative discrepancy between results of chorionic villi (direct preparation) and those of fetal tissue with an isochromosome 18q [i( 18q)l in amniotic cells and fetal blood is reported. Fluorescence in situ hybridization (FISH) confirmed this uncommon chromosomal rearrangement. The fetus showed cyclopia and multiple congenital anomalies which have never been reported in cases of i( 18q).

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