Literature DB >> 174849

Triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants.

A A Saadi, J F Juliar, J Harm, A J Brough, E V Perrin, H Chen.   

Abstract

Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.

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Year:  1976        PMID: 174849     DOI: 10.1111/j.1399-0004.1976.tb01548.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  6 in total

1.  Dispermic origin of a 69,XXY triploid.

Authors:  N L Blackwell; J W Keeling; R H Lindenbaum
Journal:  Hum Genet       Date:  1977-06-10       Impact factor: 4.132

2.  Unusually long survival in a case of full triploidy of maternal origin.

Authors:  J P Fryns; A van de Kerckhove; P Goddeeris; H van den Berghe
Journal:  Hum Genet       Date:  1977-09-22       Impact factor: 4.132

3.  Radiographic findings in liveborn triploidy.

Authors:  K G Silverthorn; C S Houston; D E Newman; B J Wood
Journal:  Pediatr Radiol       Date:  1989

4.  Autopsy findings in two cases of liveborn triploidy (69XXX; 69XXY).

Authors:  D Royston; J Bannigan
Journal:  Ir J Med Sci       Date:  1987-03       Impact factor: 1.568

5.  Human triploid embryo: cytogenetic and anatomopathologic study.

Authors:  J del Mazo; M A Martínez González; J A Abrisqueta
Journal:  Hum Genet       Date:  1977-11-10       Impact factor: 4.132

6.  Diplospermy II indicated as the origin of a liveborn human triploid (69,XXX).

Authors:  B M Page; E B Robson; P J Cook; R Sanger; J L Watt
Journal:  J Med Genet       Date:  1981-10       Impact factor: 6.318

  6 in total

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