Literature DB >> 24510694

Two siblings with unbalanced t(10;21) translocations and non-neuropathic neuropathic bladder.

Mandela Thyoka1, Alex Henderson, Bozena Starzyk, Anupam Lall.   

Abstract

We describe an unusual case of two siblings, aged 5 years and 5 months, with an unbalanced t(10;21) translocation and concomitant non-neuropathic neuropathic bladder abnormalities, whose father was a known balanced carrier of the translocation, t(10;21). Postnatally both siblings had normal spine and neurological examination. However, ultrasound scans and micturition cystourethrograms revealed grossly distended non-neuropathic neuropathic bladder. In both siblings, the bladder abnormalities responded to clean intermittent catheterisation. On follow-up, dimercaptosuccinic acid scans for both siblings showed equal split function with no scarring.

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Year:  2014        PMID: 24510694      PMCID: PMC3918640          DOI: 10.1136/bcr-2013-201757

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  5 in total

1.  Unbalanced reciprocal translocations at amniocentesis.

Authors:  Chih-Ping Chen; Pei-Chen Wu; Chen-Ju Lin; Schu-Rern Chern; Fuu-Jen Tsai; Chen-Chi Lee; Dai-Dyi Town; Wen-Lin Chen; Li-Feng Chen; Meng-Shan Lee; Chen-Wen Pan; Wayseen Wang
Journal:  Taiwan J Obstet Gynecol       Date:  2011-03       Impact factor: 1.705

2.  Transmitting balanced translocation carrier information within families: a follow-up study.

Authors:  L Suslak; D M Price; F Desposito
Journal:  Am J Med Genet       Date:  1985-02

Review 3.  Non-neurogenic elimination disorders in children.

Authors:  Marc-David Leclair; Yves Héloury
Journal:  J Pediatr Urol       Date:  2010-02-10       Impact factor: 1.830

4.  Balanced and unbalanced reciprocal translocation: an overview of a 30-year experience in a single tertiary medical center in Taiwan.

Authors:  Yi-Wen Chang; Peng-Hui Wang; Wai Hou Li; Ling-Chao Chen; Chia-Ming Chang; Pi-Lin Sung; Ming-Jie Yang; Ling-Yi Cheng; Yu-Ling Lai; Yung-Yung Cheng; Chang-Ching Yeh; Wen-Hsun Chang; Shiau-You Wang; Shang-Rong Chen; Ming-Shyen Yen; Kuan-Chong Chao
Journal:  J Chin Med Assoc       Date:  2013-01-30       Impact factor: 2.743

5.  Intrauterine diagnosis of chromosome anomalies.

Authors:  O Karjalainen; P Aula
Journal:  Ann Chir Gynaecol Fenn       Date:  1975
  5 in total

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