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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| Format: | Article |
| Language: | English |
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Wiley
2016-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2016/4645716 |
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| author | C. S. Paththinige N. D. Sirisena U. G. I. U. Kariyawasam L. P. C. Saman Kumara V. H. W. Dissanayake |
| author_facet | C. S. Paththinige N. D. Sirisena U. G. I. U. Kariyawasam L. P. C. Saman Kumara V. H. W. Dissanayake |
| author_sort | C. S. Paththinige |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-6f1b8c77867c49818a0ed4157bcdd4ad |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2016-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-6f1b8c77867c49818a0ed4157bcdd4ad2025-02-03T01:22:29ZengWileyCase Reports in Genetics2090-65442090-65522016-01-01201610.1155/2016/46457164645716Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the LiteratureC. S. Paththinige0N. D. Sirisena1U. G. I. U. Kariyawasam2L. P. C. Saman Kumara3V. H. W. Dissanayake4Human Genetics Unit, Faculty of Medicine, University of Colombo, 00800 Colombo, Sri LankaHuman Genetics Unit, Faculty of Medicine, University of Colombo, 00800 Colombo, Sri LankaHuman Genetics Unit, Faculty of Medicine, University of Colombo, 00800 Colombo, Sri LankaCastle Street Hospital for Women, 00800 Colombo, Sri LankaHuman Genetics Unit, Faculty of Medicine, University of Colombo, 00800 Colombo, Sri LankaA 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.http://dx.doi.org/10.1155/2016/4645716 |
| spellingShingle | C. S. Paththinige N. D. Sirisena U. G. I. U. Kariyawasam L. P. C. Saman Kumara V. H. W. Dissanayake Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature Case Reports in Genetics |
| 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 |
| url | http://dx.doi.org/10.1155/2016/4645716 |
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