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. |
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| Authors: | Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, 00800 Colombo, Sri Lanka.; Sirisena ND; Human Genetics Unit, Faculty of Medicine, University of Colombo, 00800 Colombo, Sri Lanka.; Kariyawasam UG; Human Genetics Unit, Faculty of Medicine, University of Colombo, 00800 Colombo, Sri Lanka.; Saman Kumara LP; Castle Street Hospital for Women, 00800 Colombo, Sri Lanka.; Dissanayake VH; Human Genetics Unit, Faculty of Medicine, University of Colombo, 00800 Colombo, Sri Lanka. |
| Source: | Case reports in genetics [Case Rep Genet] 2016; Vol. 2016, pp. 4645716. Date of Electronic Publication: 2016 Aug 16. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Wiley Country of Publication: United States NLM ID: 101583302 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2090-6544 (Print) Linking ISSN: 20906552 NLM ISO Abbreviation: Case Rep Genet Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Publication: 2023- : [Hoboken, NJ] : Wiley; Original Publication: New York, NY : Hindawi Pub. Corp. |
| 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. |
| References: | Hum Genet. 1991 Jul;87(3):320-4. (PMID: 1864607); Clin Genet. 1991 Feb;39(2):151-5. (PMID: 2015696); Hum Genet. 1977 Jun 10;37(1):87-91. (PMID: 881198); J Med Genet. 1977 Jun;14(3):228-32. (PMID: 881718); Humangenetik. 1975 May 26;28(1):9-23. (PMID: 1150264); J Korean Med Sci. 1999 Aug;14(4):373-6. (PMID: 10485615); J Med Genet. 2007 Oct;44(10):647-50. (PMID: 17911656); Acta Paediatr Hung. 1985;26(2):157-65. (PMID: 4041283); Genet Mol Res. 2010 Jan 26;9(1):134-43. (PMID: 20198569); Am J Med Genet. 1999 Dec 22;87(5):384-90. (PMID: 10594875); Klin Padiatr. 1985 Jul-Aug;197(4):294-6. (PMID: 4046483); Nat Rev Genet. 2011 Mar;12(3):167-78. (PMID: 21331089); Am J Dis Child. 1981 Aug;135(8):729-31. (PMID: 7270516); J Assoc Genet Technol. 2009;35(2):44-8. (PMID: 19443954); Am J Med Genet A. 2012 Sep;158A(9):2139-51. (PMID: 22847869); J Med Genet. 1969 Jun;6(2):224-7. (PMID: 5801472); Clin Genet. 1997 Apr;51(4):264-7. (PMID: 9184250); Am J Med Genet. 1990 Sep;37(1):79-82. (PMID: 2240048); Hum Genet. 1991 May;87(1):81-3. (PMID: 2037286); J Med Genet. 1971 Jun;8(2):235-9. (PMID: 5096548); J Med Genet. 2002 May;39(5):E23. (PMID: 12011164); Clin Genet. 2002 Nov;62(5):415-7. (PMID: 12431259); Eur J Hum Genet. 2007 May;15(5):548-55. (PMID: 17342151); Am J Med Genet C Semin Med Genet. 2008 Nov 15;148C(4):257-69. (PMID: 18932124); Am J Med Genet. 1997 Oct 31;72(3):281-5. (PMID: 9332654); Hum Genet. 1978 Oct 19;44(1):105-8. (PMID: 711237); Am J Med Genet A. 2006 Mar 15;140(6):628-32. (PMID: 16470698) |
| Entry Date(s): | Date Created: 20160910 Date Completed: 20160909 Latest Revision: 20200929 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC5004004 |
| DOI: | 10.1155/2016/4645716 |
| PMID: | 27610251 |
| Database: | MEDLINE |
Journal Article