Literature DB >> 2938473

An association of prune belly anomaly with trisomy 21.

E A Amacker, F S Grass, D E Hickey, J C Hisley.   

Abstract

We report on two patients with prune belly anomaly (PBA) and trisomy 21 documented by clinical examination and cytogenetic investigation. The first infant was diagnosed at birth. A distended bladder was detected prenatally by ultrasound in the second patient, and chromosome studies were performed on cells obtained from fetal "bladdercentesis." We discuss the importance of cytogenetic studies in cases where fatal surgery is a consideration.

Entities:  

Mesh：

Year:  1986        PMID： 2938473     DOI： 10.1002/ajmg.1320230406

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


  6 in total

1.  Rare copy number variants identified in prune belly syndrome.

Authors:  Nansi S Boghossian; Robert J Sicko; Andreas Giannakou; Aggeliki Dimopoulos; Michele Caggana; Michael Y Tsai; Edwina H Yeung; Nathan Pankratz; Benjamin R Cole; Paul A Romitti; Marilyn L Browne; Ruzong Fan; Aiyi Liu; Denise M Kay; James L Mills
Journal:  Eur J Med Genet       Date:  2017-11-23       Impact factor: 2.708

Review 2.  Posterior urethral valves in patients with Down syndrome.

Authors:  J C Kupferman; C L Stewart; F J Kaskel; R N Fine
Journal:  Pediatr Nephrol       Date:  1996-04       Impact factor: 3.714

3.  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

4.  Prune-belly anomalies in a girl with Down syndrome.

Authors:  Nafaa N Al Harbi
Journal:  Pediatr Nephrol       Date:  2003-09-12       Impact factor: 3.714

5.  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

6.  Prune belly syndrome in an Egyptian infant with Down syndrome: a case report.

Authors:  Kotb A Metwalley; Hekma S Farghalley; Alaa A Abd-Elsayed
Journal:  J Med Case Rep       Date:  2008-10-02
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.