Phenotyopic variability in patients with isodicentric y (p.11.3) : a clinical, cytogenetic and molecular study
المؤلفون المشاركون
Buhayri, Amal Qutub
Kholeif, Suha F.
Nazmi, Nahla A.
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 9، العدد 2 (30 نوفمبر/تشرين الثاني 2008)، ص ص. 189-200، 12ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2008-11-30
دولة النشر
مصر
عدد الصفحات
12
التخصصات الرئيسية
الموضوعات
الملخص EN
Introduction: Isodicentric (idic) chromosomes are the most common Y structural abnormalities and their influence on gonadal and somatic development is extremely variable.
The prediction of their phenotypic consequences is often difficult because of the variety of genomic sequences concerned by duplications and deletions, and the variable degrees of mosaics, 45, X cell line in particular, in various tissues.
The Aim : this study was conducted to provide more information on patients with idic (Yq) allowing a better phenotype-karyotype correlation and understanding the sexual differentiation in these patients .
Patients and Methods: The study included 14 patients referred to the outpatient clinic of the Human Genetics Department, Medical Research Institute, University of Alexandria.
The reason for referral was genital ambiguity [8 patients], short stature with variable Turner stigmata [4 patients] and primary amenorrhea with normal height [2 patients].
All patients were subjected to clinical examination and chromosome analysis by GTG and CTG-banding techniques.
Fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) were done to determine the structure of the marker chromosomes detected by conventional methods.
Results : Chromosome analysis revealed a 45, X / 46, X, idic (Y) (pi 1.3) in ten patients with variable degree of mosaic's, non-mosaic 46, X, idic (Y) (pi 1.3) in two patients and a predominant 46, XX cell line along with 47, XX, idic (Y) (pi 1.3) cell line in two other patients .While the patients with an idic (Yq) described in this report were phenotypically different, all are considered as being at increased risk for gonadoblastoma.
The great phenotypic variations seen in patients with an isodicentric Y chromosome greatly limit the genotype- phenotype correlation.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Nazmi, Nahla A.& Kholeif, Suha F.& Buhayri, Amal Qutub. 2008. Phenotyopic variability in patients with isodicentric y (p.11.3) : a clinical, cytogenetic and molecular study. The Egyptian Journal of Medical Human Genetics،Vol. 9, no. 2, pp.189-200.
https://search.emarefa.net/detail/BIM-105683
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Nazmi, Nahla A.…[et al.]. Phenotyopic variability in patients with isodicentric y (p.11.3) : a clinical, cytogenetic and molecular study. The Egyptian Journal of Medical Human Genetics Vol. 9, no. 2 (Nov. 2008), pp.189-200.
https://search.emarefa.net/detail/BIM-105683
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Nazmi, Nahla A.& Kholeif, Suha F.& Buhayri, Amal Qutub. Phenotyopic variability in patients with isodicentric y (p.11.3) : a clinical, cytogenetic and molecular study. The Egyptian Journal of Medical Human Genetics. 2008. Vol. 9, no. 2, pp.189-200.
https://search.emarefa.net/detail/BIM-105683
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p.198 -200
رقم السجل
BIM-105683
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر