Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function
Author(s) -
Andrea Castro,
Fernándo Rodríguez,
Martha Flórez,
Patricia López,
Bianca Curotto,
Daniela Martínez,
Aitor Zabala-Lopez de Maturana,
María Cecilia Lardone,
Cárol Palma,
Verónica Mericq,
Mauricio Ebensperger,
Fernando Cassorla
Publication year - 2016
Publication title -
human reproduction
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.446
H-Index - 226
eISSN - 1460-2350
pISSN - 0268-1161
DOI - 10.1093/humrep/dew333
Subject(s) - pseudoautosomal region , isochromosome , terminal (telecommunication) , genetics , medicine , biology , x chromosome , gene , computer science , karyotype , telecommunications , chromosome
Are copy number variations (CNVs) in the pseudoautosomal regions (PARs) frequent in subjects with Y-chromosome microdeletions and can they lead to abnormal stature and/or neuropsychiatric disorders?
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