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[SNP array analysis of three cases with partial 21q trisomy].

Lili Zhou¹, Chong Chen, Zhaoke Zheng

¹Key Laboratory for Birth Defect Research of Wenzhou City, Central Laboratory, Department of Laboratory Medicine, Central Hospital of Wenzhou, Zhejiang 325000, China.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics

|December 1, 2017

Summary

Partial 21q trisomy presents with diverse genetic forms and varied clinical outcomes. Advanced genetic analysis, like SNP array, is vital for accurate diagnosis and understanding genotype-phenotype correlations in these cases.

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Area of Science:

Genetics
Human Genetics
Chromosomal Abnormalities

Background:

Partial 21q trisomy, a chromosomal abnormality involving an extra copy of a segment of chromosome 21's long arm, can lead to a range of developmental and physical characteristics.
The clinical presentation of partial 21q trisomy is highly variable, depending on the specific region and size of the duplicated segment.
Accurate diagnosis and genotype-phenotype correlation are essential for patient management and genetic counseling.

Purpose of the Study:

To investigate three cases of partial 21q trisomy.
To correlate the specific genetic makeup (genotype) of each case with their observed clinical features (phenotype).

Main Methods:

G-banding chromosomal analysis was performed on all three cases and their parents.
Single nucleotide polymorphism (SNP) array analysis was utilized to detect and precisely map chromosomal duplications and deletions.
SNP array provides higher resolution for identifying copy number variations compared to G-banding.

Main Results:

SNP array identified partial 21q trisomy in three individuals and one mother, with duplications varying in size and location.
Case 1 had a 12.35 Mb duplication at 21q22.11q22.3, encompassing the Down syndrome critical region.
Case 2 presented with duplications on chromosomes 9 and 21, including a 14.42 Mb duplication at 21q11.2q21.3.
Case 3 exhibited mosaicism for tetraploidy at 21q11.2q21.1, with the mother showing mosaicism for triploidy in the same region.

Conclusions:

Partial 21q trisomy manifests in diverse genetic configurations, leading to heterogeneous clinical phenotypes.
The combined application of G-banding and SNP array is critical for accurate diagnosis of partial 21q trisomy.
Detailed genotype-phenotype correlation is achievable through advanced genetic analysis, aiding in understanding the impact of specific chromosomal duplications.