Literature DB >> 8084861

Terminal deletion of Xp in a dysmorphic anencephalic fetus.

A Plaja1, T Vendrell, E Sarret, N Torán, C Mediano.   

Abstract

We report an anencephalic fetus with acrania, cervicodorsal rachischisis, and a 46,X,del(X)(p22.1) karyotype. Necropsy revealed a left diaphragmatic hernia, ipsilateral lung hypoplasia, and intestinal malrotation. The fetus also had horseshoe kidneys and adrenal gland hypoplasia with absence of the fetal zone.

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Mesh：

Year:  1994        PMID： 8084861     DOI： 10.1002/pd.1970140512

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


  3 in total

1.  Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.

Authors:  Kanwal Qidwai; David M Pearson; Gayle Simpson Patel; Barbara R Pober; Ladonna L Immken; Sau Wai Cheung; Daryl A Scott
Journal:  Am J Med Genet A       Date:  2010-06       Impact factor: 2.802

Review 2.  Genetic factors in congenital diaphragmatic hernia.

Authors:  A M Holder; M Klaassens; D Tibboel; A de Klein; B Lee; D A Scott
Journal:  Am J Hum Genet       Date:  2007-04-04       Impact factor: 11.025

3.  Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.

Authors:  Julia Bijok; Sylwia Dąbkowska; Anna Kucińska-Chahwan; Diana Massalska; Beata Nowakowska; Sylwia Gawlik-Zawiślak; Grzegorz Panek; Tomasz Roszkowski
Journal:  Arch Gynecol Obstet       Date:  2022-05-12       Impact factor: 2.344
  3 in total

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