Yasemin SOYSAL, Kuyaş ÖZTÜRK HEKİMLER, Serkan KURTGÖZ, Kamuran AVCI

İnfertil bir olguda homozigot perisentrik inversiyon 9

Kromozom 9un heterokromatin bölgesini içeren perisentrik inversiyon insanlarda sık görülen kromozomal varyasyonlardan birisidir. Fenotipik anomalilerle ilişkili olmayan minör kromozomal bir yeniden düzenlenme olarak kategorize edilmekle birlikte literatürde subfertilite, tekrarlayan gebelik kaybı, kötü obstetrik öykü, konjenital anomaliler ve çeşitli klinik fenotiplerle bağlantısı olduğu yönünde makaleler bulunmaktadır. Yirmi altı yaşındaki erkek olgu infertilite tanısı ile Tıbbi Genetik kliniğine refere edildi. Fizik muayenesi ve hormonal değerleri normaldi. Aile öyküsü özellik arz etmiyordu. Sitogenetik analiz için yapılan standart periferik kan kültürü sonucu olgunun 46,XY,inv(9)(p11q13)×2 karyotipine sahip olduğu bulundu. Anne ve babanın her ikisinde de heterozigot inv(9)(p11q13) karyotipi saptandı. Bu çalışma kapsamında nadir olarak görülen 9. kromozomun perisentrik inversiyonunun homozigot olarak bildirildiği vakalar ve inversiyon ile infertilite arasındaki ilişki literatür eşliğinde tartışıldı.

An infertile case with homozygous pericentric inversion 9

The pericentric inversion of chromosome 9 consisting heterochromatin region is one of the common variatons in human. Despite being categorized as a minor chromosomal rearrangement which does not correlate with phenotype abnormalities, reports in the literature raised the association with subfertility, repeated pregnancy loss, bad obstetric history, congenital anomalies and abnormal clinical phenotypes. Twenty six year-old male infertile patient referred to Medical Genetics clinic. The physical examination and hormon profiles were normal. Family history was not specific. Cytogenetic analysis result of the patient revealed 46,XY,inv(9)(p11q13)×2 karyotype. The cytogenetic analysis of his mother and father revealed to have heterozygous inv(9)(p11q13) karyotypes. In this case, we discussed the homozygous pericentric inversion of chromosome 9 karyotype which is an unusual condition as a cause of infertility in the view of the literature.

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