First reported human chromosome karyotype mutation: 19-year-old girl has never had menstruation


Obstetrics and Gynecology Director Li Yuying introduced abnormalities happened to the reproductive system due to chromosomal abnormalities

A 19-year-old girl from North China’s Hebei Province was recently found with more than one chromosome structural changes, the abnormal karyotype has been identified by the China State Key Laboratory of Medical Genetics as “the world’s first reported human chromosome karyotype mutation.”

The case with a number of chromosome structural changes in which the patient can still survive is very rare. Chromosomal abnormality occurrence probability worldwide is approximately 0.75%. These abnormal karyotype can not be repaired, and will be carried for a whole life.

Genetics experts say, most people with chromosomal aberrations are the product of evolutionary failure; human beings can not evolve along the direction of these variants because they basically can not have offsprings.

19-year-old Zhou Rui (a pseudonym) has abnormal physical development – she is only 1 meter 50 tall, never has menstruation. She had been found with mutated chromosome.

There are 22 pairs of normal chromosome with consistent morphology in normal human beings, but Zhou Rui has four variations of the chromosomes, which can not make pairs.

Previous routine gynecological examination report showed that Zhou Rui had obvious genitals dysplasia. Her breasts were poorly developed, and the uterine body size is about one-tenth compared with ordinary people, both ovaries can’t be shown clearly.

Source: 新京报(Beijing News)

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