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Prenatal diagnosis of a fetus with partial monosomy 7(q34→qter) and partial trisomy 18(q21→qter)
Author(s) -
Pluchon E.,
Giovangrandi Y.,
Labbe F.,
Le Bris M. J.,
Collet M.,
Brettes J. P.,
Riviere D.,
Riviere M. R.
Publication year - 1993
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.1970131013
Subject(s) - monosomy , trisomy , prenatal diagnosis , down syndrome , partial trisomy , fetus , medicine , second trimester , obstetrics , pregnancy , karyotype , genetics , biology , chromosome , psychiatry , gene
Ultrasound examination of a 31‐year‐old woman at 27 weeks' gestation revealed fetal growth retardation, a bilateral cleft lip and palate, and the absence of median cerebral structures. Chromosome analysis after cordocentesis showed an abnormal karyotype with a structural abnormality of the long arm of chromosome 7: 46,XX,—7,+der(7), t(7;18) (q34;q21.3)mat. The pregnancy was terminated at week 29. The ultrasound findings were confirmed by post‐mortem examination, which also revealed a semilobar holoprosencephaly.