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

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).

[1]  B. Eiben,et al.  Discrepant karyotypes after second‐ and third‐trimester combined placentacentesis/amniocentesis , 1994 .

[2]  R. Mewar,et al.  STS map of genes and anonymous DNA fragments on human chromosome 18 using a panel of somatic cell hybrids. , 1993, Genomics.

[3]  M. Vogel,et al.  Prenatal diagnosis of monosomy 18 and ring chromosome 18 mosaicism , 1992, Prenatal diagnosis.

[4]  K. Ocraft,et al.  A rare case of a false‐negative finding in both direct and culture of a chorionic villus sample , 1992, Prenatal diagnosis.

[5]  Nagwa A. Maguld,et al.  Isodicentric chromosome 18 in an abnormal infant using chromosome specific DNA probe , 1992 .

[6]  D. Pinkel,et al.  Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. , 1988, Proceedings of the National Academy of Sciences of the United States of America.

[7]  H. Wolf,et al.  False negative findings at third trimester chorionic villus sampling (C.V.S.) , 1988, Clinical genetics.

[8]  A. Hunter.  False‐positive and false‐negative findings on chorionic villus sampling , 1987, Prenatal diagnosis.

[9]  G. Krüger,et al.  Isochromosome (18q) in siblings * , 1987, Clinical genetics.

[10]  H. Rehder,et al.  Isochromosome 18q with karyotype 46, XX, i(18q). Cytogenetics and pathology , 1984, Clinical genetics.

[11]  H. Bass,et al.  Features of trisomy 18 and 18p‐syndromes in an infant with 46, XY, i(18q) , 1979, Clinical genetics.

[12]  A. Lang,et al.  Trisomy 18 and cyclopia. , 1976, Teratology.

[13]  E. Jung,et al.  Porokeratosis [correction of Parakeratosis] Mibelli and skin carcinoma: a critical review. , 1975, Humangenetik.