Fragile X syndrome

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Record number: 
Adverse Occurrence type: 
MPHO Type: 
Estimated frequency: 
1/40000 males in the general Caucasian population
Time to detection: 
Alerting signals, symptoms, evidence of occurrence: 
Mental retardation, emotional problems, premature ovarian failure, tremor/ataxia.
Demonstration of imputability or root cause: 
Found to have the disorder following genetic screening. Neither the woman receiving donor semen or her partner has Fragile X syndrome or a family history of the disease.
Imputability grade: 
3 Definite/Certain/Proven
Groups audience: 
Suggest references: 
- Wirojanan, J, 2008.A girl with fragile X premutation from sperm donation. Am J Med Genet A 146: 888-92 - Dondorp W, 2014.ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues. Hum Reprod.1353-9.
Expert comments for publication: 
This is a case report of a girl with the fragile X premutation, whose premutation allele is derived from a sperm donor (later identified as a carrier). She is affected with physical, cognitive and behavioral features, and this is occasionally seen in carriers. Carriers are at high risk of infertility and ovarian insufficiency and, if diagnosed, they are excluded as gamete donors. An ESHRE Task Force document suggests to screen oocyte donors for Fragile-X Syndrome, together with personal and family history, but there are not any guidelines about screening sperm donors.