Literature DB >> 1174023

[Triploidy as a cause of midtrimester gestosis(author's transl)].

A Schinzel, K Hayashi, W Schmid, B Knecht, G Tuschy, E Boltshauser.   

Abstract

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.

Entities:  

Mesh:

Year:  1975        PMID: 1174023     DOI: 10.1007/bf01395911

Source DB:  PubMed          Journal:  Arch Gynakol        ISSN: 0003-9128


  22 in total

1.  Hydatidiform Mole and Coexistent Foetus, both with Triploid Chromosome Constitution.

Authors:  N A Beischer; D W Fortune; M G Fitzgerald
Journal:  Br Med J       Date:  1967-08-19

2.  Three further cases of triploidy in man surviving to birth.

Authors:  S Walker; J Andrews; N M Gregson; W Gault
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

3.  Structural aberrations of chromosome 18. I. The 18p-syndrome.

Authors:  A Schinzel; W Schmid; U Lüscher; M Nater; C Brook; B Steinmann
Journal:  Arch Genet (Zur)       Date:  1974

4.  Genetic heterogeneity of cebocephaly.

Authors:  L B Holmes; S Driscoll; L Atkins
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318

5.  [Spontaneous abortions and triploidy].

Authors:  J Levy; P A Chadeyron; B Fonty
Journal:  Rev Fr Gynecol Obstet       Date:  1972-05

6.  Identification of triploid genome by fluorescence microscopy.

Authors:  I A Uchida; C C Lin
Journal:  Science       Date:  1972-04-21       Impact factor: 47.728

7.  Chromosome studies in selected spontaneous abortions. Polyploidy in man.

Authors:  D H Carr
Journal:  J Med Genet       Date:  1971-06       Impact factor: 6.318

8.  Triploid live full-term infant.

Authors:  J Prats; E Sarret; A Moragas; C Martin
Journal:  Helv Paediatr Acta       Date:  1971-06

9.  Three cases of triploidy in man.

Authors:  J H Edwards; C Yuncken; D I Rushton; S Richards; U Mittwoch
Journal:  Cytogenetics       Date:  1967

10.  [Spontaneous abortion in women: cytogenetic and epidemiological studies].

Authors:  J Boué; A Boué
Journal:  Rev Fr Gynecol Obstet       Date:  1973-11
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  1 in total

1.  Identification of the origin of triploidy by HLA markers.

Authors:  P Couillin; J Hors; J Boué; A Boué
Journal:  Hum Genet       Date:  1978-02-23       Impact factor: 4.132

  1 in total

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