title: Discrepancy between the fetus and extra-embryonic tissues in prenatally detected mosaic distal 5p deletion.
abstract: Discrepancy between the fetus and extra-embryonic tissues in prenatally detected mosaic distal 5p deletion: We present clinical and cytogenetic data on a second-trimester fetus with mosaic del(5)(p15.1) and the extra-embryonic tissues with a normal karyotype. A 34-year-old woman, gravida 2, para 0, underwent genetic amniocentesis at 20 weeks' gestation because of advanced maternal age. Cytogenetic analysis of the cultured amniocytes revealed mosaicism for a distal 5p deletion, mos 46,XY,del(5)(p15.1)[4]/46,XY[26]. The pregnancy was terminated subsequently. Postnatally, the fetus displayed a triangular face, hypertelorism, epicanthal folds, low-set ears, and micrognathia. A karyotype of mos 46,XY,del(5)(pl 5.1)/46,XY was found in the liver, lungs, skin, and cord blood, whereas, the placenta, amnion, and umbilical cord had a karyotype of 46,XY. Our observation of fetoplacental, fetoamniotic, and fetoumbilical discrepancies shows a limitation of using placenta, amnion, and umbilical cord as confirmatory tools for prenatally detected mosaic distal 5p deletion. Our case also reinforces the notion that amniocentesis offers a more reliable diagnosis, compared to chorionic villus sampling.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com
authors.forename: C P
authors.initials: CP
authors.lastname: Chen
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
authors.forename: D D
authors.initials: DD
authors.lastname: Town
authors.forename: M S
authors.initials: MS
authors.lastname: Lee
authors.forename: W
authors.initials: W
authors.lastname: Wang
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011247:Pregnancy; D011248:Pregnancy Complications; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D014327:Trophoblasts / Q000473:pathology*