Prenatal diagnosis of a fetus with partial monosomy 7(q34→qter) and partial trisomy 18(q21→qter) | Zendy

Pluchon E. | Zendy; Giovangrandi Y. | Zendy; Labbe F. | Zendy; Le Bris M. J. | Zendy; Collet M. | Zendy; Brettes J. P. | Zendy; Riviere D. | Zendy; Riviere M. R. | Zendy

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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.

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