First discovered human chromosomal abnormal karyotype

First discovered human chromosomal abnormal karyotype

March 08, 2016 Source: People's Network

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According to experts such as Xia Jiahui, an academician of the Chinese Academy of Engineering, the State Key Laboratory of Medical Genetics, the karyotype was deposited by the Chinese Human Chromosome Abnormality Nuclear Database.

In August 2015, a male patient went to the Jinggangshan University Affiliated Hospital for fertility problems. The patient gave birth to a boy in his early years, and his wife had been aborted or had a stillbirth after repeated pregnancy. Li Tiehua and others repeatedly tested and screened their chromosomes for more than 4 months. The three chromosomes of this patient were diagnosed to have balanced ectopic and structural abnormalities, and their karyotype was named "46, XY, t (4; 6 ;5) (q21; q23; q35)".

Li Tiehua submitted this discovery to the State Key Laboratory of Medical Genetics for application for identification. After laboratory expert identification, CytogeneticsDatabase, BorgaonkarOnline Database, and Chinese Human Chromosome Abnormality Nuclei Database have not been reported. At present, this karyotype has been included in the "Chinese Human Chromosome Abnormal Nuclei Database", number 4134.

Li Tiehua introduced that the discovery of this abnormal karyotype has filled a gap in the database of human chromosomal abnormalities, providing a valuable first-hand for the study of the occurrence, development, prevention, clinical diagnosis and treatment of such genetic diseases. Data and important basis; it has important significance and reference value for enriching human abnormal karyotype database, pathogenic gene localization and diagnosis and treatment of related disease gene levels.

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