Karyotype - Phenotype Associations in Patients with Turner Syndrome

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Title:	Karyotype - Phenotype Associations in Patients with Turner Syndrome
Author(s):	Noordman, I.D. ; Velden, J.A.; Timmers, H.J. ; Pienkowski, C.; Kohler, B.; Kempers, M.J.E. ; Reisch, N.; Richter-Unruh, A.; Arlt, W.; Nordenstrom, A.; Webb, E.A.; Roeleveld, N. ; Claahsen-van der Grinten, H.L.
Publication year:	2019
Source:	Pediatric Endocrinology Reviews, vol. 16, iss. 4, (2019), pp. 431-440
ISSN:	1565-4753
DOI:	https://doi.org/10.17458/per.vol16.2019.nvt.karyotypeturnersyndrome
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/205028
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Subject:	Radboudumc 10: Reconstructive and regenerative medicine RIHS: Radboud Institute for Health Sciences Radboudumc 16: Vascular damage RIMLS: Radboud Institute for Molecular Life Sciences Radboudumc 9: Rare cancers RIHS: Radboud Institute for Health Sciences
Organization:	Paediatrics - OUD tm 2017 Internal Medicine Human Genetics Health Evidence Paediatrics
Journal title:	Pediatric Endocrinology Reviews
Volume:	vol. 16
Issue:	iss. 4
Page start:	p. 431
Page end:	p. 440
Abstract:	Variation in karyotype may be associated with the phenotype of patients with Turner syndrome (TS). Our objective was to identify these associations between karyotype and phenotype in TS patients. This study was part of the European multicentre dsd-LIFE study. We evaluated the associations between different karyotypes of TS patients and age at diagnosis, Turner stigmata, cardiac/renal involvement and gonadal function. Information was available for 328 TS patients. Participants had a monosomy 45,X (46%), mosaicism 45,X/46,XX (10%), karyotype with isochromosome (18%), or other karyotype (26%). The clinical signs of TS were the most severe in patients with monosomy 45,X and the least severe in patients with mosaicism 45,X/46,XX. Patients with isochromosome and y-material showed an intermediate phenotype. Despite the more severe features in patients with monosomy 45,X, the median age at diagnosis was only slightly lower compared to patients with other karyotypes, which suggests opportunities for improvement of knowledge and diagnostics.