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i(18q) IN AMNIOTIC AND FETAL CELLS WITH A NORMAL KARYOTYPE IN DIRECT CHORIONIC VILLUS SAMPLING: CYTOGENETICS AND PATHOLOGY
Author(s) -
LEVYMOZZICONACCI A.,
PIQUET C.,
SCHEINER C.,
ADRAI J.,
POTIER A.,
PELISSIER M. C.,
PHILIP N.
Publication year - 1996
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199612)16:12<1156::aid-pd13>3.0.co;2-k
Subject(s) - isochromosome , chorionic villus sampling , chorionic villi , fluorescence in situ hybridization , fetus , cytogenetics , karyotype , pathology , amniocentesis , prenatal diagnosis , amniotic fluid , biology , aborted fetus , aneuploidy , medicine , pregnancy , chromosome , genetics , gene
A case of false‐negative discrepancy between results of chorionic villi (direct preparation) and those of fetal tissue with an isochromosome 18q [i(18q)] 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).