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. 2016:2016:4645716.
doi: 10.1155/2016/4645716. Epub 2016 Aug 16.

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

C S Paththinige  1 , N D Sirisena  1 , U G I U Kariyawasam  1 , L P C Saman Kumara  2 , V H W Dissanayake  1
Affiliations

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

C S Paththinige et al. Case Rep Genet. 2016.

Abstract

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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Figures

Figure 1
Figure 1
Karyogram of the baby showing ring chromosome 4.
See this image and copyright information in PMC

References

    1. Kosztolányi G. The genetics and clinical characteristics of constitutional ring chromosomes. Journal of the Association of Genetic Technologists. 2008;35(2):44–48. - PubMed
    1. Sodré C. P., Guilherme R. S., Meloni V. F. A., et al. Ring chromosome instability evaluation in six patients with autosomal rings. Genetics and Molecular Research. 2010;9(1):134–143. doi: 10.4238/vol9-1gmr707. - DOI - PubMed
    1. McDermott A., Voyce M. A., Romain D. Ring chromosome 4. Journal of Medical Genetics. 1977;14(3):228–232. doi: 10.1136/jmg.14.3.228. - DOI - PMC - PubMed
    1. Freyberger G., Wamsler C., Schmid M. Ring chromosome 4 in a child with mild dysmorphic signs. Clinical Genetics. 1991;39(2):151–155. - PubMed
    1. Vermeesch J. R., Baten E., Fryns J.-P., Devriendt K. Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences. Clinical Genetics. 2002;62(5):415–417. doi: 10.1034/j.1399-0004.2002.620511.x. - DOI - PubMed

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