[Phenotypic and genetic analysis of a child featuring multiple malformations due to copy number variation on chromosome 5].

OBJECTIVE

To determine the origin of chromosomal aberration for a child featuring multiple malformation, and to correlate the genotype with phenotype.

METHODS

Routine G-banding was performed to analyze the karyotype of the patient and her parents, and array comparative genomic hybridization (array CGH) was used for fine mapping of the aberrant region.

RESULTS

The karyotype of the child was ascertained as 46,XY. Array CGH has mapped a 14.21 Mb deletion to 5p15.2p15.33, and a very small 3.67 Mb duplication to 5q35.3. The patient has presented features such as mental retardation, heart defect, low-set ears, hypertelorism and down-slanting palpebral fissures.

CONCLUSION

Chromosome 5 copy number variation can cause multiple malformation. In contrast to routine karyotype analysis, array CGH can map aberrant region with much higher resolution and accuracy.