Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) kary...

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Autores principales: Paththinige, C. S., Sirisena, N. D., Kariyawasam, U. G. I. U., Saman Kumara, L. P. C., Dissanayake, V. H. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004004/
https://www.ncbi.nlm.nih.gov/pubmed/27610251
http://dx.doi.org/10.1155/2016/4645716
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author Paththinige, C. S.
Sirisena, N. D.
Kariyawasam, U. G. I. U.
Saman Kumara, L. P. C.
Dissanayake, V. H. W.
author_facet Paththinige, C. S.
Sirisena, N. D.
Kariyawasam, U. G. I. U.
Saman Kumara, L. P. C.
Dissanayake, V. H. W.
author_sort Paththinige, C. S.
collection PubMed
description A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4.
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spelling pubmed-50040042016-09-08 Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature Paththinige, C. S. Sirisena, N. D. Kariyawasam, U. G. I. U. Saman Kumara, L. P. C. Dissanayake, V. H. W. Case Rep Genet Case Report A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4)(p15.3q35) karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-). Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4. Hindawi Publishing Corporation 2016 2016-08-16 /pmc/articles/PMC5004004/ /pubmed/27610251 http://dx.doi.org/10.1155/2016/4645716 Text en Copyright © 2016 C. S. Paththinige et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Paththinige, C. S.
Sirisena, N. D.
Kariyawasam, U. G. I. U.
Saman Kumara, L. P. C.
Dissanayake, V. H. W.
Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
title Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
title_full Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
title_fullStr Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
title_full_unstemmed Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
title_short Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
title_sort ring chromosome 4 in a child with multiple congenital abnormalities: a case report and review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5004004/
https://www.ncbi.nlm.nih.gov/pubmed/27610251
http://dx.doi.org/10.1155/2016/4645716
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