A rare case of 5p-deletion in a child: Cri-du-chat syndrome

Authors

  • Rajeshwari Narayanan Department of Paediatrics, Developmental Neurologist, Head of Child Development Centre, Dr. Kamakshi Memorial Hospital, Chennai, Tamil Nadu, India
  • Savitha Arunachalam Department of Paediatrics, Dr. Kamakshi Memorial Hospital, Chennai, Tamil Nadu, India http://orcid.org/0000-0002-2533-1127
  • Prahada Jagannathan Department of Paediatrics, Dr. Kamakshi Memorial Hospital, Chennai, Tamil Nadu, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20220459

Keywords:

Developmental delay, Dysmorphism, 5p-deletion, Cri-du-chat, Chromosomal microarray, Early intervention

Abstract

The Cri-du-chat syndrome (CdCS; OMIM#123450) is a contiguous gene syndrome caused by a variable deletion of the short arm of the chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-births. The CdCS diagnosis is suspected in a child with cat like cry during infancy, facial dysmorphisms, hypotonia and delayed psychomotor development. Genotype-phenotype correlation studies shows clinical and cytogenetic variability in CdCS. High resolution G banding karyotyping with chromosomal microarray analysis (CMA) is the definitive method for a precise diagnosis of CdCS. There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and is crucial for social rehabilitation. Here the authors reported this case in view of its rarity and classical clinical features and molecular cytogenetic findings.

Author Biographies

Rajeshwari Narayanan, Department of Paediatrics, Developmental Neurologist, Head of Child Development Centre, Dr. Kamakshi Memorial Hospital, Chennai, Tamil Nadu, India

Chief Consultant Paediatrican and Developmental Neurologist

Savitha Arunachalam, Department of Paediatrics, Dr. Kamakshi Memorial Hospital, Chennai, Tamil Nadu, India

Consultant Paediatrician

Prahada Jagannathan, Department of Paediatrics, Dr. Kamakshi Memorial Hospital, Chennai, Tamil Nadu, India

Consultant Paediatrican

References

Lejeune J, Lafourcade J, Berger R, Vialatte J, Boeswillwald M, Seringe P, et al. 3 cases of partial deletion of the short arm of a 5 chromosome. C R Hebd Seances Acad Sci. 1963;257:3098-102.

Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, et al. Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri-du-chat syndrome. Human Molecul Genet. 1994;3(2):247-52.

Niebuhr E. The cri du chat syndrome. Epidemiology, cytogenetics and clinical features. Hum Genet. 1978;44(3):227-75.

Duarte AC, Cunha E, Roth JM, Ferriera FL, Garcias GL, Martino-Roth MG. Cytogenetics of genetic counselling patients in Pelotas, Rio Grande do Sul, Brazil. Genet Mol Res. 2004;3(3):303-8.

Nguyen JM, Qualmann KJ, Okashah R, Reilly A, Alexeyev MF, Campbell DJ. 5p deletions: current knowledge and future directions. Am J Med Genet C Semin Med Genet. 2015;169(3):224-38.

Mainardi PC, Pastore G, Castronovo C, Godi M, Guala A, Tamiazzo S, et al. The natural history of Cri du Chat Syndrome. A report from the Italian Register. Eur J Med Genet. 2006;49(5):363-83.

Gu H, Jiang J, Li J, Zhang Y, Dong X, Huang Y, et al. A familial cri-du-chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis. PLoS One. 2013;8(10):76985.

Elmakky A, Carli D, Lugli L, Torelli P, Guidi B, Falcinelli C, et al. A three-generation family with terminal microdeletion involving 5p15.33-32 due to a whole-arm 5;15 chromosomal translocation with a steady phenotype of atypical cri du chat syndrome. Eur J Med Genet. 2014;57(4):145-50.

Cerruti Mainardi P. Cri du chat syndrome. Orphanet J Rare Dis. 2006;1:33.

Perfumo C, Mainardi PC, Calí A, Coucourde G, Zara F, Cavani S, et al. The first three mosaic cri du chat syndrome patients with two rearranged cell lines. J Med Genet. 2000;37(12):967-72.

Chen H. Atlas of Genetic Diagnosis and Counselling. 1st ed. Humana Press; 2006: 256-60.

Firat S, Senol PU, Aysev FAS. Cri du chat syndrome coexistent with autistic spectrum disorder. A case report. Pschiat Behavioural Sci. 2018;8(2):89-92.

Correa T, Feltes BC, Riegel M. Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome. Genet Molecul Biol. 2019;42(1):186-96.

Medina M, Marinescu RC, Overhauser J, Kosik KS. Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome. Genomics. 2000;63(2):157-64.

Boidron, Gueneau L, Huguet G, Goldenberg A, Henry C, Pallesi-Pocachard NGE, et al. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability. Eur J Human Genet. 2016;24:838-43.

Zhang A, Zheng C, Hou M, Lindvall C, Li K, Erlandsson F, et al. Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of tel- omere maintenance in Cri du chat syndrome. Am J Hum Genet 2003;72(4):940-8.

Du HY, Idol R, Robledo S, Ivanovich J, An P, Londono-Vallejo A, et al. Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Aging Cell. 2007;6(5):689-97.

Wu Q, Niebuhr E, Yang H, Hansen L. Determination of the “critical region” for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur J Hum Genet. 2005;13(4):475-85.

Tong JHS, Cummins TDR, Johnson BP, Mckinley LA, Pickering HE, Fanning P, et al. An association between a dopamine transporter gene (SLC6A3) haplotype and ADHD symptom measures in nonclinical adults. Am J Med Genet Part B Neuropsychiatr Genet. 2015;168(2):89-96.

Corrêa T, Feltes BC, Riegel M. Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome. Genet Molecul Biol. 2019;42(1):186-96.

Dangare HM, Oommen S, Sheth AN, Koshy B, Roshan R. Cri du chat syndrome: a series of five cases. Indian J Pathol Microbiol. 2012;55(4):501-5.

Downloads

Published

2022-02-23

Issue

Section

Case Reports