Здравствуйте! Помогите расшифровать кариотип. У меня: 46,XY,inv(9)(p11;q13). У супруги: 46,XX. Чем могут грозить эти изменения и каковы последствия? В анамнезе имеется выкидыш, обоим по 36 лет.
Pericentric inversion of chromosome 9 (inv[9][p11q13]) is a frequently seen chromosomal alteration in humans due to its structural organization, making it more prone to breakage. The incidence estimated is 1–3% of the general population...With several conflicting views on its clinical impact, some studies claim it to be a normal variant while some others have associated it with several diseases such as infertility and bad obstetric history... Variable clinical manifestations have been observed from normal to multiple malformations among babies born to carriers of such structurally balanced chromosomal aberration.
03.03.2023, 18:04
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