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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

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Complex genomic alterations and intellectual disability: an interpretative challenge.

R Silipigni¹, D Milani², G Tolva²

¹Laboratory of Medical Genetics, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Journal of Intellectual Disability Research : JIDR

|November 3, 2020

Summary

Complex chromosomal rearrangements (CCRs) can occur without clinical symptoms. This study details a CCR in a two-generation family, highlighting the importance of advanced genetic analysis for accurate diagnosis and risk assessment.

Keywords:

aCGH complex chromosomal rearrangements congenital abnormalities developmental delay insertional translocation non-contiguous gains

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Area of Science:

Genetics
Human Genetics
Molecular Genetics

Background:

Complex chromosomal rearrangements (CCRs) are structural variations involving multiple chromosomes or breaks.
While most CCRs (70%) are phenotypically silent, their segregation within families necessitates detailed investigation.

Observation:

A 4-year-old male presented with developmental delay, mild intellectual disability, and epicanthus.
Genetic analyses, including karyotyping, FISH, and array CGH, were performed on the patient and family members.

Findings:

Array CGH identified two non-contiguous genomic gains on chromosome 2 in the proband.
Karyotype and FISH revealed a recombinant chromosome 2 with duplicated segments inserted into region q12.
The father carried a de novo insertion on chromosome 2 and a balanced translocation between chromosomes 2 and 10; SNP array confirmed paternal origin of duplications.

Implications:

Accurate characterization of CCRs requires integrated approaches using multiple genetic techniques.
Precise evaluation is crucial for appropriate patient management and accurate reproductive risk assessment in affected families.