Ann Rehabil Med.  2013 Apr;37(2):291-294. 10.5535/arm.2013.37.2.291.

A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report

• Park DH
• Lim S
• Park ES
• Sim EG

• KMID: 2165785
• DOI: http://doi.org/10.5535/arm.2013.37.2.291

Abstract

Isodicentric chromosome 15 [idic(15)] is a rare chromosomal abnormality that occurs due to inverted duplication of chromosome 15q. It is associated with many clinical findings such as early central hypotonia, developmental delay, cognitive dysfunction, autism spectrum disorders, and seizure. Delayed development is a common problem referred to pediatric rehabilitation clinics. A 9-month-old boy with delayed development was referred to our clinic for assessment and treatment. On chromosomal analysis, he was diagnosed as idic(15) syndrome with 47,XY,+idic(15)(q12) on karyotyping. Herein we describe his clinical manifestations and provide a brief review of the related literature.

Keyword

Chromosomal abnormality; Developmental delay disorders; Tetrasomy 15q

MeSH Terms

Aneuploidy
Child
Autism Spectrum Disorder
Chromosome Aberrations
Chromosomes, Human, Pair 15
Developmental Disabilities
Karyotyping
Muscle Hypotonia
Seizures
Aneuploidy
Chromosomes, Human, Pair 15

Figure

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  Fig. 1 The boy shows some facial dysmorphism including downslanting palpebral fissures, deep-set eyes and microcephaly.

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  Fig. 2 Karyotyping of subject shows isodicentric chromosome 15 [idic(15)]. (A) Idic(15) is indicated by an arrow. (B) Comparison of iIdic(15) with normal chromosome 15. Two centromeres and q12 bands can be seen in Idic(15).

Reference

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