Detection of Y Chromosomal Material in Patients with a 45,X Karyotype by PCR Method

• Semerci C. Nur

  Department of Medical Biology, Center for Genetic Diagnosis, School of Medicine, Pamukkale University

• Satiroglu-Tufan N. Lale

  Department of Medical Biology, Center for Genetic Diagnosis, School of Medicine, Pamukkale University

• Turan Serap

  Department of Pediatric Endocrinology, School of Medicine, Marmara University

• Bereket Abdullah

  Department of Pediatric Endocrinology, School of Medicine, Marmara University

• Tuysuz Beyhan

  Department of Medical Genetics, Cerrahpasa Faculty of Medicine, Istanbul University

• Yilmaz Elif

  Department of Medical Genetics, Cerrahpasa Faculty of Medicine, Istanbul University

• Kayserili Hulya

  Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University

• Karaman Birsen

  Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University

• Semiz Serap

  Division of Pediatric Endocrinology, Department of Pediatrics, School of Medicine, Pamukkale University

• Duzcan Fusun

  Department of Medical Biology, Center for Genetic Diagnosis, School of Medicine, Pamukkale University

• Bagci Huseyin

  Department of Medical Biology, Center for Genetic Diagnosis, School of Medicine, Pamukkale University

抄録

A 45,X karyotype is one of the common chromosomal abnormalities characterized by short stature, lack of development of secondary sexual characteristics, webbed neck and cubitus valgus. This phenotype was described by Turner in 1938 and was called Turner syndrome (TS). About 40-60% of the patients with TS phenotype have a 45,X karyotype, the rest either have a structurally abnormal X or Y chromosome or mosaicism with a second cell line. Determination of Y chromosome derivatives in patients with a 45,X karyotype is important for the management of these patients due to increased risk of gonadoblastoma. Low level mosaicisim of Y chromosome may be missed by cytogenetic methods. The aim of our study is to analyze cryptic Y chromosome derivatives using Y specific sequences in 40 Turkish patients with a pure 45,X karyotype. Fourteen different Y specific sequences along the Y chromosome were selected for the detection of cryptic Y chromosome material by PCR analysis. The present study demonstrated that 2 patients with a 45,X karyotype (5%) have Y specific sequences except sex releated region Y (SRY). One of them had displayed enhanced virilisation whereas other showed no virilisation. In conclusion, it has been found by PCR analysis that 5% of patients with a 45,X karyotype have Y chromosome sequences in the absence of any marker chromosome by cytogenetic analysis. The data also suggest that the patients with a 45,X karyotype should be analyzed for the presence of Y chromosome derivatives by sensitive methods, such as PCR, in order to calculate the future risk of developing gonadoblastoma.

収録刊行物

• The Tohoku Journal of Experimental Medicine

  The Tohoku Journal of Experimental Medicine 211 (3), 243-249, 2007

  東北ジャーナル刊行会

キーワード

• 45,X karyotype
• Y sequences
• PCR
• gonadoblastoma
• virilisation

詳細情報

• CRID: 1390282679218792448
• NII論文ID: 130004459545
• NII論文ID: 10018874150
• NII書誌ID: AA00863920
• DOI: 10.1620/tjem.211.243
• ISSN: 13493329
• ISSN: 00408727
• Web Site: http://www.jstage.jst.go.jp/article/tjem/211/3/211_3_243/_pdf
• Web Site: https://search.jamas.or.jp/link/ui/2007281683
• 本文言語コード: en
• データソース種別:
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  • Crossref
  • CiNii Articles
• 抄録ライセンスフラグ: 使用不可