Chromosomal Duplication Syndromes: A Case Series

Chromosomal deletion and duplication syndromes can lead to intellectual disability, autism, microcephaly, and poor growth. Usually manifestations of duplication syndromes are milder than that of the deletion syndromes. With the availability of tests for analysis of copy number variants, it is possib...

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Bibliographic Details
Published inNeurology India Vol. 72; no. 1; pp. 124 - 128
Main Authors Panigrahi, Inusha, Shariq, Mohammed, Bamba, Chitra, Kaur, Ramandeep, Bhatt, Yogita, Srivastava, Priyanka
Format Journal Article
LanguageEnglish
Published India Medknow Publications and Media Pvt. Ltd 01.01.2024
Medknow Publications & Media Pvt. Ltd
Subjects
Care and treatment
Child
Chromosome abnormalities
Chromosome Deletion
Chromosome Duplication - genetics
Complications and side effects
Cytomegaloviruses
Diagnosis
Humans
Intellectual Disability - genetics
Microcephaly - genetics
Syndrome
India
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Summary:Chromosomal deletion and duplication syndromes can lead to intellectual disability, autism, microcephaly, and poor growth. Usually manifestations of duplication syndromes are milder than that of the deletion syndromes. With the availability of tests for analysis of copy number variants, it is possible to identify the deletion and duplication syndromes with greater ease. We report 32 cases of chromosomal duplication syndromes, identified in children presenting with developmental delay, intellectual disability, or microcephaly and/or additional features, at a tertiary care center on karyotyping or microarray analysis. Seven were isolated duplications, and one child had an additional smaller pathogenic deletion. Thus, duplication syndromes can have milder presentations with spectrum of dysmorphism, behavioral problems, and intellectual disability, but it is possible to diagnose easily with latest emerging high-throughput technologies.
ISSN:0028-3886
1998-4022
DOI:10.4103/ni.ni_400_21