Inherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p

• Published in: Journal of pediatric genetics (Birmingham, Ala.) Vol. 2; no. 3; pp. 163 - 169
• Main Authors: Sharma, Pankaj, Gupta, Neerja, Chowdhury, Madhumita R., Sapra, Savita, Shukla, Rashmi, Lall, Meena, Kabra, Madhulika
• Format: Journal Article
• Language: English
• Published: New York Georg Thieme Verlag KG 01.09.2013; Stuttgart
• Subjects: Case Report; developmental delay; chromosomal microarray; prenatal diagnosis; 5p deletion; Cri du Chat syndrome; multiplex ligation-dependent probe amplification
• ISSN: 2146-4596; 2146-460X
• DOI: 10.3233/PGE-13062

Abstract 5p deletion syndrome or Cri du Chat syndrome is a autosomal deletion syndrome, caused by the de novo deletion of chromosome 5p in the majority of the cases. Clinical features include developmental delay, microcephaly, subtle facial dysmorphism and high-pitched cry. With the advent of newer techniques such as multiplex ligation-dependent probe amplification, rapid diagnosis is possible and chromosomal microarray helps in accurate delineation of the breakpoints. In this study, we characterized probands from two Indian families who had duplication of another chromosome in addition to deletion of 5p region. In the first family, two females of 3 and 5 yr of age had deletion of 5p15.33p15.2 (14.7 Mb) and duplication of 8q24.21q24.3 (15.4 Mb). Proband in the second family was a 2-year-old female and had deletion of 5p15.33p14.3 (22.55 Mb) along with duplication of 12p13.33p13.31 (7.7 Mb). In both the families, father was balanced translocation carrier of the chromosomes involved. Patients in family 1 had overwhelming features of 5p deletion while patient in family 2, besides having features of 5p deletion, showed many features of 12p duplications. Prenatal diagnosis was possible in both the families. To the best of our knowledge, this is the first detailed molecular cytogenetic analysis and prenatal diagnosis report of 5p deletion syndrome from India.