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Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14).

ABSTRACT: Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.

SUBMITTER: Latrech H

PROVIDER: S-EPMC6311845 | biostudies-other | 2018

REPOSITORIES: biostudies-other

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Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14).

Latrech Hanane H Madar Houssein H Gaouzi Ahmed A

Case reports in endocrinology 20181217

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation. ...[more]

PMID: 30647978

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