Literature DB >> 3534871

Prune belly in trisomy 13.

C M McKeown, D Donnai.   

Abstract

Prune belly (urethral obstruction sequence) has previously been reported as an isolated malformation sequence, in association with trisomy 18 (Nevin et al., 1983) and more recently with trisomy 13 (Beckman et al., 1984). A further case associated with trisomy 13 in a fetus is reported. This emphasizes the importance of karyotyping fetuses with prune belly identified prenatally.

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Year:  1986        PMID: 3534871     DOI: 10.1002/pd.1970060507

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


  2 in total

1.  Copy number variations in a population with prune belly syndrome.

Authors:  Nida S Iqbal; Thomas A Jascur; Steven Harrison; Catherine Chen; Michelle K Arevalo; Daniel Wong; Emma Sanchez; Gwen Grimsby; Kathleen Wilson; Linda A Baker
Journal:  Am J Med Genet A       Date:  2018-10-04       Impact factor: 2.802

2.  Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.

Authors:  Nida S Iqbal; Thomas A Jascur; Steven M Harrison; Angelena B Edwards; Luke T Smith; Erin S Choi; Michelle K Arevalo; Catherine Chen; Shaohua Zhang; Adam J Kern; Angela E Scheuerle; Emma J Sanchez; Chao Xing; Linda A Baker
Journal:  BMC Med Genet       Date:  2020-02-21       Impact factor: 2.103

  2 in total

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