Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

Sogaard, M; Tumer, Z; Hjalgrim, H; Hahnemann, J; Friis, B; Ledaal, P; Pedersen, VF; Baekgaard, P; Tommerup, N; CİNGÖZ, SULTAN; Duno, M; Brondum-Nielsen, K

doi:10.1186/1471-2350-6-21

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter

Sogaard M., Tumer Z., Hjalgrim H., Hahnemann J., Friis B., Ledaal P., ...More

BMC MEDICAL GENETICS, vol.6, 2005 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 6
Publication Date: 2005
Doi Number: 10.1186/1471-2350-6-21
Journal Name: BMC MEDICAL GENETICS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE, Directory of Open Access Journals
Open Archive Collection: AVESIS Open Access Collection
Dokuz Eylül University Affiliated: No

Abstract

Background: Cryptic chromosome imbalances are increasingly acknowledged as a cause for mental retardation and learning disability. New phenotypes associated with specific rearrangements are also being recognized. Techniques for screening for subtelomeric rearrangements are commercially available, allowing the implementation in a diagnostic service laboratory. We report the diagnostic yield in a series of 132 subjects with mental retardation, and the associated clinical phenotypes.