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Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability
Author(s) -
Tyson C.,
Dawson A.J.,
Bal S.,
Tomiuk M.,
Anderson T.,
Tucker D.,
Riordan D.,
Chudoba I.,
Morash B.,
Mhanni A.,
Chudley A.E.,
McGillivray B.,
Parslow M.,
Rappold G.,
Roeth R.,
Fawcett C.,
Qiao Y.,
Harvard C.,
RajcanSeparovic E.
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32535
Subject(s) - chromosome , gene duplication , genetics , intellectual disability , biology , gene
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.