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

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Familial 7q11.23 duplication with variable phenotype.

Siddaramappa J Patil¹, Smrithi Salian², Venkaraman Bhat³

¹Department of Medical Genetics, Narayana Multispecialty Hospital, Bangalore, India.

American Journal of Medical Genetics. Part A

|June 26, 2015

Summary

This summary is machine-generated.

Paternally inherited 7q11.23 microduplication can cause developmental delay, macrocephaly, and brain malformations. This genetic condition highlights the importance of understanding chromosomal abnormalities and their inheritance patterns.

Keywords:

7q11.23 duplication congenital heart disease dsygenesis and hypoplasia corpus callosum hypoplasia of left cerebellum macrocephaly

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Area of Science:

Genetics
Developmental Biology
Clinical Medicine

Background:

Chromosomal microdeletions and microduplications result in a spectrum of clinical features, from normal phenotypes to severe intellectual disability and congenital anomalies.
Deletion of the 7q11.23 region causes Williams-Beuren syndrome, while duplication of the same region leads to a distinct clinical presentation.
Both 7q11.23 microdeletions and microduplications are known to be inherited within families.

Observation:

This report details a case of a patient with a paternally inherited 7q11.23 microduplication.
The patient presented with developmental delay, macrocephaly (an abnormally large head), and structural brain malformations.

Findings:

The study confirms familial inheritance of the 7q11.23 microduplication.
The identified microduplication is associated with significant neurodevelopmental and structural brain abnormalities in the patient.

Implications:

This case expands the understanding of the phenotypic variability associated with 7q11.23 microduplications.
Further research into 7q11.23 duplications is warranted to better diagnose and manage affected individuals.
Genetic counseling and testing are crucial for families with a history of chromosomal abnormalities.