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PARTIAL TRISOMY/MONOSOMY 6q IN FETAL CELLS AND CVS LONG‐TERM CULTURE NOT PRESENT IN CVS SHORT‐TERM CULTURE
Author(s) -
WEGNER R.D.,
SCHRÖCK E.,
OBLADEN M.,
BECKER R.,
STUMM M.,
SPERLING K.
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(199608)16:8<741::aid-pd931>3.0.co;2-w
Subject(s) - chorionic villi , monosomy , karyotype , trisomy , fluorescence in situ hybridization , comparative genomic hybridization , biology , aneuploidy , cytogenetics , chromosome , prenatal diagnosis , genetics , fetus , pathology , pregnancy , medicine , gene
A cytogenetic discrepancy in chorionic villi with implications for prenatal diagnosis is described. Chromosome analysis revealed a normal karyotype in banded metaphases from short‐term culture and a chromosome count of 46 in cells of the long‐term culture. After the birth of a malformed infant, a structurally aberrant chromosome 6 was found in lymphocytes and skin fibroblasts. Re‐analysis of chorionic villi confirmed the result from short‐term culture but disclosed the presence of the structural aberration in cells of the long‐term culture. This type of inconsistency is reported for the first time and stresses the importance of a numerical and structural analysis of both short‐term and long‐term culture. The application of three techniques, chromosome banding, comparative genomic hybridization (CGH), and fluorescence in situ hybridization (FISH) analysis, was essential to prove that the derivative chromosome carried a combined partial trisomy/monosomy for 6q. The findings are discussed with respect to the origin of the structural aberration and to the consequences for prenatal diagnosis on chorionic villi and genetic counselling.