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Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):534-537. doi: 10.3760/cma.j.issn.1003-9406.2017.04.014.

[Genetic analysis of a mental retardation patient with a rare karyotype involving complex rearrangements of five chromosomes].

[Article in Chinese]

Author information

1
Department of Clinical Genetics, Huaian Maternal and Child Healthcare Hospital, Huaian, Jiangsu 223002, China. jonespan@gmail.com.

Abstract

OBJECTIVE:

To explore the genetic cause of a female patient with severe mental retardation and a history of adverse pregnancy.

METHODS:

The patient was subjected to G-banded chromosome analysis and single nucleotide polymorphism array (SNP-array) assaying. The correlation between genomic variations and the phenotype was explored.

RESULTS:

The patient was found to have a complex chromosome rearrangement involving 5 chromosomes. The karyotypes of her parents were both normal. SNP-array assay has identified a 1.6 Mb microdeletion at chromosome 15q21.3 which involved 15 RefSeq genes and a 0.5 Mb microdeletion at 5q21.1 which involved one RefSeq gene.

CONCLUSION:

The microdeletions, which involved TCF12, ADMA10 and AQP9 genes, probably underlie the mental retardation shown by the patient.

[Indexed for MEDLINE]

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