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

TY - JOUR

T1 - 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

AU - Sogaard, Marie

AU - Tümer, Zeynep

AU - Hjalgrim, Helle

AU - Hahnemann, Johanne

AU - Friis, Birgitte

AU - Ledaal, Paal

AU - Pedersen, Vibeke Faurholt

AU - Baekgaard, Peter

AU - Tommerup, Niels

AU - Cingöz, Sultan

AU - Duno, Morten

AU - Brøndum-Nielsen, Karen

N1 - Keywords: Abnormalities, Multiple; Adolescent; Adult; Bone Diseases, Developmental; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Painting; Chromosomes, Human, Pair 2; Chromosomes, Human, Pair 22; Craniofacial Abnormalities; Female; Growth Disorders; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Male; Mental Retardation; Syndrome; Telomere; Translocation, Genetic

PY - 2005

Y1 - 2005

N2 - 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. METHODS: We applied commercially available subtelomeric fluorescence in situ hybridization (FISH). All patients referred for subtelomeric screening in a 5-year period were reviewed and abnormal cases were further characterized clinically and if possible molecularly. RESULTS: We identified nine chromosomal rearrangements (two of which were in sisters) corresponding to a diagnostic yield of approx. 7%. All had dysmorphic features. Five had imbalances leading to recognizable phenotypes. CONCLUSION: Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause.

AB - 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. METHODS: We applied commercially available subtelomeric fluorescence in situ hybridization (FISH). All patients referred for subtelomeric screening in a 5-year period were reviewed and abnormal cases were further characterized clinically and if possible molecularly. RESULTS: We identified nine chromosomal rearrangements (two of which were in sisters) corresponding to a diagnostic yield of approx. 7%. All had dysmorphic features. Five had imbalances leading to recognizable phenotypes. CONCLUSION: Subtelomeric screening is a useful adjunct to conventional cytogenetic analyses, and should be considered in mentally retarded subjects with dysmorphic features and unknown cause.

U2 - 10.1186/1471-2350-6-21

DO - 10.1186/1471-2350-6-21

M3 - Journal article

C2 - 15904506

SN - 1471-2350

VL - 6

SP - 21

JO - B M C Medical Genetics

JF - B M C Medical Genetics

ER -