PMID- 15904506
OWN - NLM
STAT- MEDLINE
DCOM- 20050728
LR  - 20181113
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 6
DP  - 2005 May 17
TI  - 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.
PG  - 21
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.
FAU - Sogaard, Marie
AU  - Sogaard M
AD  - The John F, Kennedy Institute, Glostrup, Denmark. msg@cancer.dk
FAU - Tumer, Zeynep
AU  - Tumer Z
FAU - Hjalgrim, Helle
AU  - Hjalgrim H
FAU - Hahnemann, Johanne
AU  - Hahnemann J
FAU - Friis, Birgitte
AU  - Friis B
FAU - Ledaal, Paal
AU  - Ledaal P
FAU - Pedersen, Vibeke Faurholt
AU  - Pedersen VF
FAU - Baekgaard, Peter
AU  - Baekgaard P
FAU - Tommerup, Niels
AU  - Tommerup N
FAU - Cingoz, Sultan
AU  - Cingoz S
FAU - Duno, Morten
AU  - Duno M
FAU - Brondum-Nielsen, Karen
AU  - Brondum-Nielsen K
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
DEP - 20050517
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Adolescent
MH  - Adult
MH  - Bone Diseases, Developmental/genetics
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - *Chromosome Deletion
MH  - Chromosome Painting/methods
MH  - Chromosomes, Human, Pair 2/genetics
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Craniofacial Abnormalities/genetics
MH  - Female
MH  - Growth Disorders/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/methods
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Male
MH  - Syndrome
MH  - Telomere/*genetics
MH  - Translocation, Genetic/genetics
PMC - PMC1174871
EDAT- 2005/05/21 09:00
MHDA- 2005/07/29 09:00
PMCR- 2005/05/17
CRDT- 2005/05/21 09:00
PHST- 2004/11/01 00:00 [received]
PHST- 2005/05/17 00:00 [accepted]
PHST- 2005/05/21 09:00 [pubmed]
PHST- 2005/07/29 09:00 [medline]
PHST- 2005/05/21 09:00 [entrez]
PHST- 2005/05/17 00:00 [pmc-release]
AID - 1471-2350-6-21 [pii]
AID - 10.1186/1471-2350-6-21 [doi]
PST - epublish
SO  - BMC Med Genet. 2005 May 17;6:21. doi: 10.1186/1471-2350-6-21.