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.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2014.01.013 | DOI Listing |
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