Del(18p) syndrome with increased nuchal translucency in prenatal diagnosis.
We report a de novo translocation between chromosome 15 and 18 resulting in monosomy 18p in prenatal diagnosis. The patient was referred for amniocentesis due to increased nuchal translucency (INT) (5 mm) at 13.6 weeks of gestation. Karyotype of the fetus revealed 45,XX,der(15;18)(q10;q10) in all metaphases. The targeted fetal ultrasound at 20 weeks of gestation did not show any special physical abnormalities other than 6.4 mm of nuchal fold thickness. Molecular cytogenetic findings using CGH and FISH confirmed the del(18p) with dicentromeres from both chromosome 15 and 18. The present study shows that the INT at first trimester was the only prenatal finding for the fetus with del(18p) syndrome and that molecular cytogenetic methods are useful for detecting chromosomal aberrations precisely.
Kim
Young-Mi
YM
Laboratory of Medical Genetics, Samsung Cheil Hospital and Women's Healthcare Center, Medical Research Institute, Seoul, Korea.
Cho
Eun-Hee
EH
Kim
Jin-Mi
JM
Lee
Moon-Hee
MH
Park
So-Yeon
SY
Ryu
Hyun-Mee
HM
D000328:Adult; D000649:Amniocentesis; D025063:Chromosome Disorders / Q000175:diagnosis*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000000981:diagnostic imaging*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D009006:Monosomy / Q000175:diagnosis*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D013577:Syndrome; D014178:Translocation, Genetic; D014463:Ultrasonography