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• W2034894908 abstract "We describe two males with intellectual disability (ID) and facial dysmorphism, both of whom have non-mosaic Y chromosome rearrangements resulting in deletions of large portions of the Y chromosome. Patient A, with ID, mild dysmorphism, speech delay, Duane anomaly of the eye, hypermetropia and conductive hearing loss, had two structurally rearranged Y chromosomes resulting in both p and q arm deletions in addition to a Yp duplication. Patient B, also with speech and language delay, developmental delay and short stature, had an interstitial deletion of Yq11.21–11.23. Array-CGH excluded the presence of additional submicroscopic rearrangements at the 1 Mb resolution level. A review of males with Y chromosome rearrangements and ID was performed. Our study provides a more detailed molecular cytogenetic assessment of Y rearrangements in individuals with ID than has been previously possible, and facilitates assessment and comparison of other individuals with a Y chromosome rearrangement. © 2009 Wiley-Liss, Inc." @default.
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• W2034894908 date "2009-03-01" @default.
• W2034894908 modified "2023-09-26" @default.
• W2034894908 title "Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability" @default.
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• W2034894908 doi "https://doi.org/10.1002/ajmg.a.32535" @default.
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