title: Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability.
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.
authors.affiliation: Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada. christine.tyson@fraserhealth.ca
authors.forename: C
authors.initials: C
authors.lastname: Tyson
authors.forename: A J
authors.initials: AJ
authors.lastname: Dawson
authors.forename: S
authors.initials: S
authors.lastname: Bal
authors.forename: M
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authors.lastname: Tomiuk
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authors.lastname: Anderson
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authors.lastname: Tucker
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authors.lastname: Riordan
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authors.lastname: Chudoba
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authors.lastname: Morash
authors.forename: A
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authors.lastname: Mhanni
authors.forename: A E
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authors.lastname: Chudley
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authors.lastname: McGillivray
authors.forename: M
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authors.lastname: Parslow
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authors.lastname: Rappold
authors.forename: R
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authors.lastname: Roeth
authors.forename: C
authors.initials: C
authors.lastname: Fawcett
authors.forename: Y
authors.initials: Y
authors.lastname: Qiao
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authors.lastname: Harvard
authors.forename: E
authors.initials: E
authors.lastname: Rajcan-Separovic
mesh_terms: D002648:Child; D022202:Chromosomes, Artificial, Bacterial; D041322:Chromosomes, Human, Y; D055028:Comparative Genomic Hybridization; D020732:Cytogenetic Analysis; D002658:Developmental Disabilities / Q000235:genetics*; D015321:Gene Rearrangement; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007805:Language Development Disorders / Q000235:genetics*; D008297:Male; D055815:Young Adult