Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype

E-resources

Peer reviewed

Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype

Stalker, Heather J; Keller, Kory L; Gray, Brian A; Zori, Roberto T

American journal of medical genetics. Part A, 15 January 2003, Volume: 116A, Issue: 2

Journal Article

We report on a 34-year-old developmentally disabled man referred to our clinic for evaluation of possible Prader-Willi syndrome on the basis of obesity and voracious appetite. Cytogenetic and molecular analysis revealed a 47, XYY karyotype and the presence of a trinucleotide repeat expansion resulting in fragile X syndrome. To our knowledge, this is the first report of concurrence of XYY and fragile X syndrome in the medical literature. Review of sex chromosome abnormalities associated with fragile X syndrome and phenotypic considerations are presented.

Keep searching

Author

Stalker, Heather J | Keller, Kory L | Gray, Brian A | Zori, Roberto T

Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.

Year	Impact factor		Edition		Category		Classification
Year	JCR	SNIP	JCR	SNIP	JCR	SNIP	JCR	SNIP

Links to authors' personal bibliographies	Links to information on researchers in the SICRIS system

Source: Personal bibliographies and: SICRIS

Upload image

Shelf entry

Adding material to shelf was successful.

Adding material to shelf failed.

It was not necessary to add the material to the shelf.

Permalink

E-mail

Impact factor

Select the library membership card:

DRS, in which the journal is indexed

Citations

Theme