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Fetal translocation between chromosomes 2, 18, and 21 resolved by fish
Author(s) -
Delaroche Isabella,
Sabani Margherita,
Calabrese Giuseppe,
Mingarelli Rita,
Palka Giandomenico,
Dallapiccola Bruno
Publication year - 1995
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/pd.1970150312
Subject(s) - chromosomal translocation , cytogenetics , fluorescence in situ hybridization , fetus , prenatal diagnosis , fish <actinopterygii> , biology , karyotype , down syndrome , genetics , microbiology and biotechnology , pathology , chromosome , medicine , pregnancy , gene , fishery
An apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22‐week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics.