PMID- 11840483
OWN - NLM
STAT- MEDLINE
DCOM- 20020626
LR  - 20190906
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 107
IP  - 4
DP  - 2002 Feb 1
TI  - Subtelomeric rearrangements detected in patients with idiopathic mental 
      retardation.
PG  - 275-84
AB  - A screening for submicroscopic rearrangements was performed in 111 patients with 
      idiopathic mental retardation (MR) using fluorescence in situ hybridization 
      (FISH) probes from the subtelomeric regions of all chromosome arms. Ten cryptic 
      rearrangements were found (9%): five de novo deletions; one unbalanced de novo 
      translocation; three unbalanced inherited translocations; and one unbalanced 
      recombinant chromosome, inherited from a parent with a pericentric inversion. In 
      addition, 50 of the patients were screened for interstitial rearrangements with 
      spectral karyotyping (SKY), but no aberrations were found. However, SKY detected 
      the subtelomeric rearrangement in three of the four unbalanced translocations. 
      Dysmorphic features were present in all patients with detected subtelomeric 
      rearrangements.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Anderlid, Britt-Marie
AU  - Anderlid BM
AD  - Department of Molecular Medicine, Clinical Genetic Unit, Karolinska Hospital, 
      Stockholm, Sweden. britt.marie.anderlid@cmm.ki.se
FAU - Schoumans, Jacqueline
AU  - Schoumans J
FAU - Anneren, Goran
AU  - Anneren G
FAU - Sahlen, Sigrid
AU  - Sahlen S
FAU - Kyllerman, Marten
AU  - Kyllerman M
FAU - Vujic, Mihailo
AU  - Vujic M
FAU - Hagberg, Bengt
AU  - Hagberg B
FAU - Blennow, Elisabeth
AU  - Blennow E
FAU - Nordenskjold, Magnus
AU  - Nordenskjold M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Aberrations
MH  - Chromosome Painting
MH  - DNA Probes
MH  - Female
MH  - Gene Rearrangement
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Intellectual Disability/etiology/*genetics
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - *Telomere
EDAT- 2002/02/13 10:00
MHDA- 2002/06/27 10:01
CRDT- 2002/02/13 10:00
PHST- 2002/02/13 10:00 [pubmed]
PHST- 2002/06/27 10:01 [medline]
PHST- 2002/02/13 10:00 [entrez]
AID - 10.1002/ajmg.10029 [pii]
AID - 10.1002/ajmg.10029 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Feb 1;107(4):275-84. doi: 10.1002/ajmg.10029.