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Updated: Jan 22, 2026
FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
[Genetic diagnosis of a child with Smith-Magenis syndrome]
Yue Gao1, Dong Wu, Xiaodong Huo
1Henan Provincial People's Hospital, Medical Genetic Institute of Henan Province, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China. ychslshx@126.com.
Objective:
To explore the molecular mechanism of a girl with developmental delay and intellectual disability.
Methods:
Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions.
Results:
No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child.
Conclusion:
The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.
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