Mosaic Turner Syndrome Presenting with a 46,XY Karyotype

المؤلفون المشاركون

Rasouli, Melody
McDaniel, Katherine
Awadalla, Michael
Chung, Karine

المصدر

Case Reports in Obstetrics and Gynecology

العدد

المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-3، 3ص.

الناشر

Hindawi Publishing Corporation

تاريخ النشر

2019-04-11

دولة النشر

مصر

عدد الصفحات

3

التخصصات الرئيسية

الأمراض

الملخص EN

Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases.

We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis.

Individuals with a mosaic 45,X/46,XY genotype have a variety of phenotypic presentations ranging from male to female which are not correlated with the percentage of mosaicism.

Our case represents an extreme example where the genotype is predominately 46,XY and the phenotype typical of Turner syndrome.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Rasouli, Melody& McDaniel, Katherine& Awadalla, Michael& Chung, Karine. 2019. Mosaic Turner Syndrome Presenting with a 46,XY Karyotype. Case Reports in Obstetrics and Gynecology،Vol. 2019, no. 2019, pp.1-3.
https://search.emarefa.net/detail/BIM-1141616

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Rasouli, Melody…[et al.]. Mosaic Turner Syndrome Presenting with a 46,XY Karyotype. Case Reports in Obstetrics and Gynecology No. 2019 (2019), pp.1-3.
https://search.emarefa.net/detail/BIM-1141616

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Rasouli, Melody& McDaniel, Katherine& Awadalla, Michael& Chung, Karine. Mosaic Turner Syndrome Presenting with a 46,XY Karyotype. Case Reports in Obstetrics and Gynecology. 2019. Vol. 2019, no. 2019, pp.1-3.
https://search.emarefa.net/detail/BIM-1141616

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references

رقم السجل

BIM-1141616