Molecular cytogenetic investigation of two patients with Y chromosome rearrangements and intellectual disability

• Published in: American journal of medical genetics. Part A Vol. 149A; no. 3; pp. 490 - 495
• Main Authors: 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., Rajcan‐Separovic, E.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2009; Wiley-Liss
• Subjects: Adult and adolescent clinical studies; Biological and medical sciences; Child; chromosome aberrations; chromosomes; Chromosomes, Artificial, Bacterial; Chromosomes, Human, Y; Comparative Genomic Hybridization; Cytogenetic Analysis; cytogenetics; Developmental Disabilities - genetics; Gene Rearrangement; human; Humans; In Situ Hybridization, Fluorescence; Intellectual deficiency; intellectual disability; Karyotyping; Language Development Disorders - genetics; Male; Medical genetics; Medical sciences; microarray analysis; Psychology. Psychoanalysis. Psychiatry; Psychopathology. Psychiatry; Young Adult; Chromosomal aberration; Handicap; Human; chromosome aberrations; microarray analysis; chromosomes; Patient; Developmental disorder; Y-Chromosome; Mental retardation; Cytogenetics; Intellectual deficiency; Y; intellectual disability
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.32535

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.