Prenatal diagnosis of a fetus with partial monosomy 7(q34-->qter) and partial trisomy 18(q21-->qter)
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Updated: Sep 30, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
E Pluchon1, Y Giovangrandi, F Labbe
1Service d'Histologie Embryologie et Cytogénétique, Faculté de Médecine, Université de Bretagne Occidentale, Brest, France.
Abstract:
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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