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46,X, +mar (Y), inv(Y) (p11.2;q11.23)? Karyotipli Bir Olgu

A Case With 46,X, +mar (Y), inv (Y) (p11.2;q11.23)? Karyotype

Journal Name:

  • Fırat Tıp Dergisi

Publication Year:

  • 2008

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Pericentric inversion of Y chromosome has an estimated frequency of the one per thousand. This inversion is always inherited but also is possible a de novo presentation. Sometimes this inverted chromosome is associated with the Down, Klinefelter and other chromosomal syndromes. For the carriers of pericentric inversion the risk of the mental retardation or multiple abortion is not apparently increase and there is not relation with abnormal phenotypic features. The pericentric inversion of Y chromosome is only a rare chromosomal heteromorphism. Chromosome analysis of the father is advisable to determine whether or not the inversion is familial in order to be able to provide genetic counselling. Cytogenetic analysis from amniotic fluid cells and parents' peripheral blood lymphocyte cultures were prepared by routine methods. Fluorescence in situ hybridization (FISH) was performed on cultured amniotic fluid cells to confirm the presence of Y-bearing cells. We performed molecular genetic analysis for Y chromosomal loci (SRY, ZFY, SY84, SY86, SY127, SY134, SY254, SY255). In cytogenetic analysis, the karyotype of male fetus, other brother's and his father's were exhibited as 46,X, +mar (Y), inv (Y) (p11.2;q11.23)?. His mother's was 46, XX. In these cases, it was concluded that there was no clinical significance because the same abnormality was found in other members of the family. All of them have normavl phenotypic features. This finding suggests that the pericentric inversion of the Y chromosome affects neither the phenotype nor reproductive performance. ©2008, Firat University, Medical Faculty
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Abstract (Original Language): 
Y kromozomunun perisentrik inversiyonunun görülme sıklığı 1/1000'dir. Bu inversiyon daima kalıtılmaktadır ama de novo olarak da meydana gelmesi mümkündür. Bazen bu inverted kromozom Down, Klinefelter ve diğer kromozomal sendromlarla ilişkili olabilir. Perisentrik inversiyon taşıyıcılarında mental retardasyon veya çoklu düşük riskinde artış görülmez ve anormal fenotipik özelliklerle ilişkisi yoktur. Y kromozomunun perisentrik inversiyonu, sadece nadir kromozomal bir heteromorfizmdir. Genetik danışmanlık verebilmek için inversiyonun ailesel olup olmadığını saptamada babanın kromozomal analiz yaptırması tavsiye edilebilir. Sitogenetik analiz amniyotik sıvı hücrelerinden ve ebeveynlerin periferik kan lenfosit kültüründen rutin metodlara göre yapıldı. Floresans in situ hibridizasyon (FISH), Y taşıyan hücrelerin varlığını tespit etmek için kültürü yapılmış amniyotik sıvı hücrelerinden yapıldı. Y kromozom bölgeleri (SRY, ZFY, SY84, SY86, SY127, SY134, SY254, SY255) için moleküler genetik analiz yapıldı. Sitogenetik analizde; erkek fetüsün, kardeşinin ve babasının karyotipinin 46,X, +mar (Y), inv(Y) (p11.2;q11.23)? olduğu görüldü. Probandın annesinin karyotipi 46,XX'di. Bu vakalarda, bu karyotipin klinik bir öneminin olmadığı kararına varıldı. Çünkü aynı anormallik ailenin diğer üyelerinde bulundu. Onların hepsi de normal fenotipik özelliklere sahiptiler. Bu bulgular, Y kromozomunun perisentrik inversiyonunun ne fenotipe ne de üretkenlik perfonmansına herhangi bir etkisinin olmadığını ileri sürmektedir. ©2008, Fırat Üniversitesi, Tıp Fakültesi
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