Prenatal diagnosis of a fetus with partial monosomy 7(q34→qter) and partial trisomy 18(q21→qter) |
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| Authors: | Dr E Pluchon Y Giovangrandi F Labbe M J Le Bris M Collet J P Brettes D Riviere M R Riviere |
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| Institution: | 1. Service de Gynécologie-Obstétrique, Faculté de Médecine et Centre Hospitaller Universitaire, Université de Bretagne Occidentale, 29200 Brest, France;2. Service d'Histologie Embryologie et Cytogénétique, Université de Bretagne Occidentale, 29200 Brest, France |
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| 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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| Keywords: | Prenatal diagnosis Partial monosomy 7q Partial trisomy 18q Cleft lip and palate Holoprosencephaly |
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