Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome

Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome

We report a detailed phenotypic, cytogenetic and molecular characterization of a patient prenatally diagnosed with Turner syndrome (TS). In addition to having typical TS clinical characteristics including webbed neck, high arched palate and coarctation of the aorta, the patient had features less fre...

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Bibliographic Details
Main Authors: Alejandro F. Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P. Dehner, Katherine Semenkovich, Ana María Arbeláez
Format: Article
Language:English
Published: Galenos Yayincilik 2019-03-01
Series:JCRPE
Subjects:
Turner syndrome
genetic testing
hyperparathyroidism
inherited 1q deletion
signs of Y-chromosomal influence
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/nherited-deletion-of-1q-hyperparathyroidism-and-si/17109

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http://www.jcrpe.org/archives/archive-detail/article-preview/nherited-deletion-of-1q-hyperparathyroidism-and-si/17109

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