PMID- 15039644
OWN - NLM
STAT- MEDLINE
DCOM- 20040810
LR  - 20111117
IS  - 1234-1010 (Print)
IS  - 1234-1010 (Linking)
VI  - 10
IP  - 4
DP  - 2004 Apr
TI  - Subtelomeric rearrangements: results from FISH studies in 84 families with 
      idiopathic mental retardation.
PG  - CR143-51
AB  - BACKGROUND: The etiology of mental retardation (MR) is unexplained in at least 
      50% of cases. Recently it was shown that subtle telomeric rearrangements may be a 
      common cause of idiopathic mental retardation (IMR). MATERIAL/METHODS: We studied 
      84 families with IMR and unspecific clinical features suggesting chromosomal 
      aberration, including 59 patients with moderate to severe MR and 24 with mild MR. 
      One healthy father of three deceased, severely MR children was also included. 
      Fluorescence in situ hybridization (FISH) using 41 subtelomeric probes (the 
      Chromoprobe Multiprobe--T System) was performed in all patients. RESULTS: Ten 
      (11.9%) subtle chromosome rearrangements were identified. Nine (10.7%) were 
      subtelomeric abnormalities. Seven were familial, with six of paternal origin. All 
      but one were products of parental balanced reciprocal translocation or inversion. 
      Retrospective G-banding analysis showed that six of the nine rearrangements could 
      be seen or suspected at the 450-550 band levels. Subtelomeric abnormalities were 
      recognized in six patients with severe/moderate (including the father of children 
      with severe MR) and in three with mild MR. CONCLUSIONS: Our results confirm 
      previous findings on the importance of subtelomeric rearrangements in the 
      etiology of MR. They also show the diagnostic utility of subtelomeric FISH in 
      detecting subtle telomeric rearrangements in IMR cases. The high proportion of 
      familial rearrangements emphasizes their importance for genetic counseling. FISH 
      screening was more reliable and efficient in identifying subtle telomeric 
      abnormalities than G-banding analysis. However, as many of the subtelomeric 
      abnormalities could be detected in retrospect even at the 550 band level, 
      high-resolution G-banding analysis should always precede subtelomere assay. This 
      is important for a better estimation of the real frequency of cryptic 
      subtelomeric abnormalities.
FAU - Bocian, Ewa
AU  - Bocian E
AD  - Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland. 
      ebocian@imid.med.pl
FAU - Helias-Rodzewicz, Zofia
AU  - Helias-Rodzewicz Z
FAU - Suchenek, Kamila
AU  - Suchenek K
FAU - Obersztyn, Ewa
AU  - Obersztyn E
FAU - Kutkowska-Kazmierczak, Anna
AU  - Kutkowska-Kazmierczak A
FAU - Stankiewicz, Pawel
AU  - Stankiewicz P
FAU - Kostyk, Ewa
AU  - Kostyk E
FAU - Mazurczak, Tadeusz
AU  - Mazurczak T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Med Sci Monit
JT  - Medical science monitor : international medical journal of experimental and 
      clinical research
JID - 9609063
RN  - 0 (DNA Probes)
SB  - IM
MH  - *Chromosome Aberrations
MH  - Chromosome Disorders/*genetics
MH  - DNA Probes/chemistry
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/*genetics
MH  - Karyotyping
MH  - Telomere/*genetics
EDAT- 2004/03/25 05:00
MHDA- 2004/08/11 05:00
CRDT- 2004/03/25 05:00
PHST- 2003/10/16 00:00 [received]
PHST- 2004/01/29 00:00 [accepted]
PHST- 2004/03/25 05:00 [pubmed]
PHST- 2004/08/11 05:00 [medline]
PHST- 2004/03/25 05:00 [entrez]
AID - 4250 [pii]
PST - ppublish
SO  - Med Sci Monit. 2004 Apr;10(4):CR143-51.