Prenatal diagnosis of a fetus with partial monosomy 7(q34-->qter) and partial trisomy 18(q21-->qter).
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.
Pluchon
E
E
Service d'Histologie Embryologie et Cytogénétique, Faculté de Médecine, Université de Bretagne Occidentale, Brest, France.
Giovangrandi
Y
Y
Labbe
F
F
Le Bris
M J
MJ
Collet
M
M
Brettes
J P
JP
Riviere
D
D
Riviere
M R
MR
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000032:Abortion, Therapeutic; D000328:Adult; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002897:Chromosomes, Human, Pair 7; D002971:Cleft Lip / Q000000981:diagnostic imaging / Q000235:genetics; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000235:genetics; D017218:Cordocentesis; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000235:genetics; D016142:Holoprosencephaly / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D014178:Translocation, Genetic; D014314:Trisomy; D016216:Ultrasonography, Prenatal