TY - JOUR
T1 - Behavioral phenotype in a child with Prader-Willi syndrome and comorbid 47, XYY
AU - Palkar, Pooja
AU - Kabasakalian, Anahid
AU - Taylor, Bonnie
AU - Doernberg, Ellen
AU - Ferretti, Casara Jean
AU - Uzunova, Genoveva
AU - Hollander, Eric
PY - 2016
Y1 - 2016
N2 - We report a 12-year-old male with Prader-Willi syndrome (PWS) and 47, XYY syndrome. Genetic work up revealed 47, XYY karyotype. PWS diagnosis was made by polymerase chain reaction methylation and maternal uniparental disomy (mUPD) was determined to be the etiology. Review of distinct behavioral features, possible interplay between the two syndromes and considerations for diagnoses are presented. To our knowledge, this is the first report of behavioral features in PWS with comorbid 47, XYY.
AB - We report a 12-year-old male with Prader-Willi syndrome (PWS) and 47, XYY syndrome. Genetic work up revealed 47, XYY karyotype. PWS diagnosis was made by polymerase chain reaction methylation and maternal uniparental disomy (mUPD) was determined to be the etiology. Review of distinct behavioral features, possible interplay between the two syndromes and considerations for diagnoses are presented. To our knowledge, this is the first report of behavioral features in PWS with comorbid 47, XYY.
KW - 47
KW - Attention deficit hyperactivity disorder
KW - Autism spectrum disorder
KW - Prader-Willi syndrome
KW - XYY
UR - http://www.scopus.com/inward/record.url?scp=85030142498&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85030142498&partnerID=8YFLogxK
U2 - 10.5582/irdr.2016.01043
DO - 10.5582/irdr.2016.01043
M3 - Letter
AN - SCOPUS:85030142498
SN - 2186-3644
VL - 5
SP - 235
EP - 237
JO - Intractable and Rare Diseases Research
JF - Intractable and Rare Diseases Research
IS - 3
ER -