Literature DB >> 1867253

Holoprosencephaly in a newborn girl with 46,XX,i(18q).

N B Spinner1, D L Eunpu, J R Austria, P Mamunes.   

Abstract

We report on a newborn girl with holoprosencephaly, microcephaly, absent right radius, and other anomalies with an 46,XX,i(18q) chromosome constitution. This is the first report of an i(18q) in syndromal alobar holoprosencephaly.

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Year:  1991        PMID： 1867253     DOI： 10.1002/ajmg.1320390104

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

1.  Prenatal detection of short arm deletion and isochromosome 18 formation investigated by molecular techniques.

Authors:  M B Qumsiyeh; A Tomasi; M Taslimi
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

2.  Prenatal diagnosis of alobar holoprosencephaly, cyclopia, proboscis, and isochromosome 18q in the second trimester.

Authors:  Meike Bangma; Simone Lunshof; Diane Van Opstal; Robert J Galjaard; Dimitri N M Papatsonis
Journal:  AJP Rep       Date:  2011-06-08
  2 in total

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