Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature
Joint Authors
Sirisena, Nirmala D.
Paththinige, C. S.
Kariyawasam, U. G. I. U.
Saman Kumara, L. P. C.
Dissanayake, Vajira H. W.
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-7, 7 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-08-16
Country of Publication
Egypt
No. of Pages
7
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Paththinige, C. S.& Sirisena, Nirmala D.& Kariyawasam, U. G. I. U.& Saman Kumara, L. P. C.& Dissanayake, Vajira H. W.. 2016. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature. Case Reports in Genetics،Vol. 2016, no. 2016, pp.1-7.
https://search.emarefa.net/detail/BIM-1100756
Modern Language Association (MLA)
Paththinige, C. S.…[et al.]. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature. Case Reports in Genetics No. 2016 (2016), pp.1-7.
https://search.emarefa.net/detail/BIM-1100756
American Medical Association (AMA)
Paththinige, C. S.& Sirisena, Nirmala D.& Kariyawasam, U. G. I. U.& Saman Kumara, L. P. C.& Dissanayake, Vajira H. W.. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature. Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-7.
https://search.emarefa.net/detail/BIM-1100756
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1100756
