Literature DB >> 8301659

Pseudotrisomy 13 and autosomal recessive holoprosencephaly.

M J Seller1, L S Chitty, H Dunbar.   

Abstract

Two sibs, diagnosed prenatally, had holoprosencephaly, midface hypoplasia, and normal chromosomes. The first fetus also had polydactyly. This sibship may represent an example of autosomal recessive pseudotrisomy 13.

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Year:  1993        PMID： 8301659      PMCID： PMC1016613          DOI： 10.1136/jmg.30.11.970

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


  4 in total

Review 1.  Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities.

Authors:  M M Cohen
Journal:  Am J Med Genet       Date:  1989-10

Review 2.  Pseudo-trisomy 13 syndrome.

Authors:  M M Cohen; R J Gorlin
Journal:  Am J Med Genet       Date:  1991-06-01

3.  Holoprosencephaly, polydactyly and normal chromosomes: pseudo-trisomy 13?

Authors:  B G Hewitt; M J Seller; C P Bennett; D M Maxwell
Journal:  Clin Genet       Date:  1989-08       Impact factor: 4.438

4.  Holoprosencephaly and polydactyly: a possible expression of the hydrolethalus syndrome.

Authors:  H Bachman; R D Clark; W Salahi
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318
  4 in total
  1 in total

Review 1.  Holoprosencephaly-polydactyly/pseudotrisomy 13: a presentation of two new cases and a review of the literature.

Authors:  Sophia M Bous; Benjamin D Solomon; Luitgard Graul-Neumann; Heidemarie Neitzel; Emily E Hardisty; Maximilian Muenke
Journal:  Clin Dysmorphol       Date:  2012-10       Impact factor: 0.816
  1 in total

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