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

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Array CGH defined interstitial deletion on chromosome 14: a new case.

Maria Piccione¹, Vincenzo Antona, Valeria Scavone

¹Dipartimento Materno Infantile, Università di Palermo, via Cardinale Rampolla 1, 90142, Palermo, Italy.

European Journal of Pediatrics

|January 21, 2010

Summary

This summary is machine-generated.

Interstitial deletions of chromosome 14 are rare genetic conditions. This study details a case in an 8.5-year-old girl, identifying a critical chromosomal region for further study.

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Area of Science:

Genetics
Human Chromosomes
Clinical Genetics

Background:

Interstitial deletions of chromosome 14 (14q deletions) are uncommon chromosomal abnormalities.
These deletions can lead to various clinical manifestations, including developmental delays and distinctive facial features.

Observation:

A rare case of de novo interstitial deletion on the long arm of chromosome 14 is presented.
The patient is an 8.5-year-old girl exhibiting dysmorphic facial features and mental retardation.

Findings:

Genetic analysis was performed to precisely delineate the deleted region on chromosome 14.
Comparison with previously reported cases helps define the critical region associated with this deletion.

Implications:

Defining the critical region aids in understanding the genotype-phenotype correlation for 14q deletions.
Accurate follow-up and genetic counseling can be initiated for patients with similar chromosomal abnormalities.