Literature DB >> 6607355

Triploidy with cyclopia and identical HLA alleles in the parents.

J C Lambert, P Philip, G Charpentier, M Ferrari, M Donzeau, N Ayraud.   

Abstract

A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX. The parents had identical HLA alleles A1, A2, and Bw21. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the parents' identical immunological status are discussed.

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Year:  1984        PMID： 6607355      PMCID： PMC1049211          DOI： 10.1136/jmg.21.1.63

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  9 in total

1.  Cyclopia associated with triploidy and hydatidiform mole: a case report.

Authors:  L Deligdisch; C Legum; M R Peyser; R Toaff
Journal:  Teratology       Date:  1978-10

2.  [Triploidy in the child. I. Study of phenotype. An observation of triploidy with mosaicism 46, XX/69, XXY].

Authors:  M David; A Chambon; C Laurent; H Plauchu; D Lindner; A Rouchon; E de Peretti; J Genoud; M Jeune
Journal:  Pediatrie       Date:  1975 Apr-May

Review 3.  Triploidy in man. Cytogenetical and clinical aspects.

Authors:  E Niebuhr
Journal:  Humangenetik       Date:  1974-02-21

4.  [Triploid (69, XXX) child having lived for 9 days].

Authors:  J de Grouchy; M Roubin; J C Risse; S Sarrut
Journal:  Ann Genet       Date:  1974-12

5.  [Attempt at a definition of a coefficient of risk of chromosome abnormalities at the beginning of pregnancy].

Authors:  J Boué; I Morer; P Vignal
Journal:  J Genet Hum       Date:  1980-09

6.  Human triploidy: association with partial hydatidiform moles and nonmolar conceptuses.

Authors:  A E Szulman; E Philippe; J G Boué; A Boué
Journal:  Hum Pathol       Date:  1981-11       Impact factor: 3.466

7.  Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole.

Authors:  P A Jacobs; A E Szulman; J Funkhouser; J S Matsuura; C C Wilson
Journal:  Ann Hum Genet       Date:  1982-07       Impact factor: 1.670

8.  [Holoprosencephaly by triploidy 69 XXX in a 5 month old fetus].

Authors:  J M Emberger; C Marty-Double; D Pincemin; J Caderas de Kerleau
Journal:  Ann Genet       Date:  1976-09

9.  Maternal-age effect in aneuploidy: does altered embryonic selection play a role?

Authors:  S Aymé; A Lippman-Hand
Journal:  Am J Hum Genet       Date:  1982-07       Impact factor: 11.025
  9 in total

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