Prenatal diagnosis of 18q-syndrome: a case of fetal mosaicism with a normal karyotype in chorionic villi.
We report a case of fetoplacental discrepancy with normal karyotype on chorionic villi and deletion of the long arm of chromosome 18 on amniotic fluid. Cytogenetic tests were repeated because of a short corpus callosum on ultrasound examination. This 18q-syndrome has been reported to be associated with poor neurodevelopmental outcome.
Anselem
O
O
Hôpital Louis Mourier, Paris, France.
Bazin
A
A
Mechler
C
C
Blin
G
G
Garel
C
C
Aboura
A
A
Moutard
M-L
ML
Mandelbrot
L
L
D000328:Adult; D000649:Amniocentesis; D002824:Chorionic Villi / Q000648:ultrastructure; D015193:Chorionic Villi Sampling; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000000981:diagnostic imaging / Q000235:genetics; D003337:Corpus Callosum / Q000000981:diagnostic imaging / Q000254:growth & development; D005188:False Negative Reactions; D005260:Female; D047109:Fetal Development; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D050497:Stillbirth; D016216:Ultrasonography, Prenatal