Document Detail

Familial occurrence of Turner syndrome: casual event or increased risk?
MedLine Citation:
PMID:  21648298     Owner:  NLM     Status:  In-Process    
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.
Daniela Larizza; Cesare Danesino; Paola Maraschio; Claudia Caramagna; Catherine Klersy; Valeria Calcaterra
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  24     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2011  
Date Detail:
Created Date:  2011-06-08     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  223-5     Citation Subset:  IM    
Department of Pediatrics, University of Pavia and IRCCS Policlinico San Matteo Foundation, Pavia, Italy.
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