Reference : A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, cong...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/160354
A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.
English
Mutesa, Leon [> >]
JAMAR, Mauricette mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
PIERQUIN, Geneviève mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
BOURS, Vincent mailto [Centre Hospitalier Universitaire de Liège - CHU > > Génétique >]
2012
Indian journal of human genetics
18
3
352-5
Yes (verified by ORBi)
International
0971-6866
India
[en] 48 ; XXYY/47 ; XYY syndrome ; congenital heart disease ; multiple skeletal abnormalities
[en] While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.
http://hdl.handle.net/2268/160354
10.4103/0971-6866.108033

File(s) associated to this reference

Fulltext file(s):

FileCommentaryVersionSizeAccess
Open access
Indian Journal.pdfPublisher postprint742.56 kBView/Open

Bookmark and Share SFX Query

All documents in ORBi are protected by a user license.