GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency

GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency

Abstract Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short stature homeobox-containing Sex-determining Region Y gene, growth may be severely compr...

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Bibliographic Details
Main Authors: Maria Cristina Maggio, Giovanni Corsello
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Italian Journal of Pediatrics
Subjects:
SHOX haploinsufficiency
Growth hormone
Treatment adherence
Chromosome translocation
Online Access:http://link.springer.com/article/10.1186/s13052-019-0694-y

Internet

http://link.springer.com/article/10.1186/s13052-019-0694-y

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