Literature DB >> 837565

A case of double trisomy in a liveborn infant: 48, XXY, "13.

J B Malhes, C M Moore, J J Gershank.   

Abstract

Ambigouous genitalia, microcephaly, microphthalmia, hyoptelorism, single choanal opening, low-set ears, simian creases, Tetralogy of Fallot, bilateral hydronephrosis, and absence of the left ureter characterized an infant the died 1 hour postpartum with the karyotype 48,XXY,+13.

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Mesh：

Year:  1977        PMID： 837565     DOI： 10.1111/j.1399-0004.1977.tb01292.x

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


  3 in total

1.  Maternal origin of 47,XXY and confined placental mosaicism 47,XXY/48,XXY,+13 in an infant conceived through IVF.

Authors:  Elizabeth X Wu; Andrew D Wilson; Edgar Chan Wong; Jon C Havelock; Sai Ma
Journal:  J Assist Reprod Genet       Date:  2013-04-27       Impact factor: 3.412

2.  Double non-disjunction in maternal meiosis II giving rise to a fetus with 48,XXX,+21.

Authors:  V M Park; R R Bravo; L P Shulman
Journal:  J Med Genet       Date:  1995-08       Impact factor: 6.318

3.  A liveborn case of 49,XXXY, + 18.

Authors:  N B Kardon; A L Berger; M Elice; J G Davis; E C Jenkins
Journal:  J Med Genet       Date:  1980-10       Impact factor: 6.318
  3 in total

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