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[Phenotypic and genetic analysis of a boy with partial trisomy of 22q]
Bo Zhang1, Ying Xu, Jinghui Kong
1Henan Provincial Key Laboratory for Inborn Errors of Metabolism in Children, Children's Hospital Affiliated of Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450003, China. li_dongxiao@sina.com.
Objective:
To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities.
Methods:
Chromosomal karyotypes of the proband and his parents were determined by routine G-banding analysis. Genomic DNA was also analyzed with single nucleotide polymorphism array (SNP array).
Results:
The karyotype of the proband was 46,X,add(Y)(q11.23). No karyotypic abnormality was detected in either parent. SNP array has identified a de novo 21.6 Mb duplication at 22q12qter in the proband.
Conclusion:
The de novo 22q12qter duplication probably underlies the abnormalities in the proband.
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