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

ABSTRACT

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.