A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature-Reference-Cited by-同舟云学术

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

Published:2018-05-08 Issue:1 Volume:11 Page:
ISSN:1755-8794
Container-title:BMC Medical Genomics
language:en
Short-container-title:BMC Med Genomics

Author:

Paththinige C. S.^ORCID,Sirisena N. D.,Kariyawasam U. G. I. U.,Ediriweera R. C.,Kruszka P.,Muenke M.,Dissanayake V. H. W.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12920-018-0366-6.pdf

Reference21 articles.

1. Courtens W, Vroman S, Vandenhove J, Wiedemann U, Schinzel A. Pre-and perinatal findings in partial trisomy 7q resulting from balanced parental translocations t(7;21) and t(4;7). Prenatal Diag. 2001;21:642–8.

2. Scelsa B, Bedeschi FM, Guerneri S, Lalatta F, Introvini P. Partial trisomy of 7q: case report and literature review. J Child Neurol. 2008;23:572–9.

3. Carnevale A, Frías S, Castillo VD. Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11). Clin Genet. 1978;14:202–6.

4. Ponnala R, Dalal A. Partial monosomy 7q. Indian Pediatr. 2011;48:399–401.

5. Xiao B, Ji X, Jiang WT, Zhang JM, Hu Q, Tao J. A case with partial trisomy 7 (q34→ qter) derived from a paternal reciprocal translocation t(7; 14)(q34; q32) [abstract]. Zhonghua yi xue yi chuan xue za zhi= Zhonghua yixue yichuanxue zazhi= Chinese J Med Genet. 2011;28:654–7.

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