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Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement
Author(s) -
Pires António,
Ramos Lina,
Venâncio Margarida,
Rei Ana Isabel,
Castedo Sérgio,
Saraiva Jorge
Publication year - 2005
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.1105
Subject(s) - fluorescence in situ hybridization , prenatal diagnosis , cystic hygroma , monosomy , trisomy , chromosomal translocation , cytogenetics , partial hydatidiform mole , gestation , amniotic fluid , oligohydramnios , aneuploidy , obstetrics , fetus , medicine , karyotype , biology , pregnancy , genetics , chromosome , placenta , gene
The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and ventricular septal defect. Amniotic fluid cytogenetics using GTG banding showed a 46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ hybridization (FISH) delineated the relevant breakpoints. Familial studies identified a maternal balanced translocation involving chromosomes 3 and 13. The post‐mortem examination confirmed the prenatal ultrasound findings. Copyright © 2005 John Wiley & Sons, Ltd.