Complex sSMC Involving X and Y Chromosomes in two Patients with 45,X/46,X,+mar Karyotype

نویسندگان
چکیده

منابع مشابه

Small supernumerary marker chromosomes (sSMC) in humans.

Small supernumerary marker chromosomes (sSMC), defined as additional centric chromosome fragments too small to be identified or characterized unambiguously by banding cytogenetics alone, are present in 0.043% of newborn children. Several attempts have been made to correlate certain sSMC with a specific clinical picture, resulting in the description of several syndromes such as the i(18p)-, der(...

متن کامل

Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC.

Small supernumerary marker chromosomes (sSMC) in human are defined as additional centric derivatives smaller than chromosome 20. In the majority of the cases only one sSMC is present, leading to a more or less stable karyotype of 47,XX,+mar or 47,XY,+mar. In approximately 1.4% of sSMC cases two or up to seven markers of different chromosomal origin are reported. According to the literature a sS...

متن کامل

Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.

To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia. Cytogenetic and fluorescence in situ hybridization investigations were carried out on his peripheral lymphocytes. As a result, three cell lines, 45,X, 46,X,idi...

متن کامل

Aneuploidy Assessment of X, Y, 18 Chromosomes in Sperm of Oligoteratospermia Using FISH Technique

Introduction: Not being to get pregnant, after one year of unprotected sex is called infertility. In the post, infertility was mainly a female problem, but the role of male factors in infertility has denotation, although a greater percentage of this infertility is related to the deficiencies of semen. Methods: This case-control study was performed on sperm samples from 30 infertile oligoterato...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Global Journal of Medical Research

سال: 2021

ISSN: 2249-4618,0975-5888

DOI: 10.34257/gjmrfvol20is13pg19