Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability.
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.
Tyson
C
C
Department of Pathology, University of British Columbia, Vancouver, British Columbia, Canada. christine.tyson@fraserhealth.ca
Dawson
A J
AJ
Bal
S
S
Tomiuk
M
M
Anderson
T
T
Tucker
D
D
Riordan
D
D
Chudoba
I
I
Morash
B
B
Mhanni
A
A
Chudley
A E
AE
McGillivray
B
B
Parslow
M
M
Rappold
G
G
Roeth
R
R
Fawcett
C
C
Qiao
Y
Y
Harvard
C
C
Rajcan-Separovic
E
E
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