[Triploidy as a cause of midtrimester gestosis(author's transl)].
The authors report a case of triploidy in a prematurely born child. The pregnancy was complicated by severe toxemia beginning during the second trimester and terminating in preeclampsia leading to cesarian section in the 33th week of gestation. The externally female child was underweight, hypotonic and asphyctic and died shortly after birth. She exhibited a complex brain malformation including excessive hydrocephaly, cebocephaly and aplasia of the piturary gland, and multiple dysmorphic signs. Autopsy revealed hypoplasia and dysplasia of the adrenal glands; no uterus, tubes and ovaries were present, but no testes were found. The placenta showed localized hydatidiform degeneration and was relatively large. The karyotype was 69,XXY, and with the aid of fluorescence markers, paternal origin of the additional haploid chromosome set was demonstrated. Typical findings in pregnancies with fetal triploidy are discussed and the possibility of prenatal diagnosis of triploidy by chromosome analysis in cultivated amniotic fluid cells is pointed out.
D000015:Abnormalities, Multiple / Q000150:complications; D000311:Adrenal Glands / Q000473:pathology; D000653:Amniotic Fluid / Q000166:cytology; D001344:Autopsy; D002585:Cesarean Section; D002869:Chromosome Aberrations / Q000150:complications / Q000175:diagnosis; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D003581:Cytodiagnosis; D005260:Female; D005315:Fetal Diseases / Q000150:complications*; D006801:Humans; D006849:Hydrocephalus / Q000473:pathology; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000473:pathology; D007621:Karyotyping; D008297:Male; D008431:Maternal-Fetal Exchange; D010920:Placenta / Q000473:pathology; D011123:Polyploidy; D011225:Pre-Eclampsia / Q000209:etiology*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis
Triploidie als Ursache von Schwangerschaftsgertose im 2. Trimeron