Familial occurrence of Turner syndrome: Casual event or increased risk?

Daniela Larizza; Cesare Danesino; Paola Maraschio; Claudia Caramagna; Catherine Klersy; Valeria Calcaterra

doi:10.1515/JPEM.2011.091

Familial occurrence of Turner syndrome: Casual event or increased risk?

Daniela Larizza, Cesare Danesino, Paola Maraschio, Claudia Caramagna, Catherine Klersy, Valeria Calcaterra

IRCCS Fondazione Policlinico San Matteo

Research output: Contribution to journal › Article › peer-review

Abstract

Aim: The prevalence of Turner syndrome (TS) at birth has been estimated as approximately 1 in 2500 live female births. An increased risk of TS in subsequent pregnancies for couples who already have a daughter with TS has not been reported. Methods: We reviewed the records of 140 patients to evaluate the presence of familial TS occurrence. Results: Recurrence of TS was observed in 1.4% of our case series, which represents a 35-fold increased probability of having a second child with TS compared to no recurrence. Conclusion: This observation suggests that a risk of recurrence is possible, even though it is generally assumed that the likelihood of recurrent pregnancies with TS is similar to that in the general population. A wider study would be useful to confirm these data to improve genetic counseling for families with a daughter with TS.

Original language	English
Pages (from-to)	223-225
Number of pages	3
Journal	Journal of Pediatric Endocrinology and Metabolism
Volume	24
Issue number	3-4
DOIs	https://doi.org/10.1515/JPEM.2011.091
Publication status	Published - Apr 1 2011

Keywords

familial occurrence
genetic counseling
risk
Turner syndrome.

ASJC Scopus subject areas

Endocrinology
Endocrinology, Diabetes and Metabolism
Pediatrics, Perinatology, and Child Health

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10.1515/JPEM.2011.091

Cite this

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title = "Familial occurrence of Turner syndrome: Casual event or increased risk?",

abstract = "Aim: The prevalence of Turner syndrome (TS) at birth has been estimated as approximately 1 in 2500 live female births. An increased risk of TS in subsequent pregnancies for couples who already have a daughter with TS has not been reported. Methods: We reviewed the records of 140 patients to evaluate the presence of familial TS occurrence. Results: Recurrence of TS was observed in 1.4% of our case series, which represents a 35-fold increased probability of having a second child with TS compared to no recurrence. Conclusion: This observation suggests that a risk of recurrence is possible, even though it is generally assumed that the likelihood of recurrent pregnancies with TS is similar to that in the general population. A wider study would be useful to confirm these data to improve genetic counseling for families with a daughter with TS.",

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AU - Larizza, Daniela

AU - Danesino, Cesare

AU - Maraschio, Paola

AU - Caramagna, Claudia

AU - Klersy, Catherine

AU - Calcaterra, Valeria

PY - 2011/4/1

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Familial occurrence of Turner syndrome: Casual event or increased risk?

Abstract

Keywords

ASJC Scopus subject areas

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