PMID- 16152642
OWN - NLM
STAT- MEDLINE
DCOM- 20080227
LR  - 20200930
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 138A
IP  - 3
DP  - 2005 Oct 15
TI  - FISH-mapping of telomeric 14q32 deletions: search for the cause of seizures.
PG  - 218-24
AB  - Ring chromosome 14 is a rare cytogenetic disorder. Individuals with r(14) 
      generally have developmental delay and seizures. Other features include 
      hypotonia, microcephaly, mild facial dysmorphism, and retinal pigmentation. Most 
      of these features are also found in patients with linear terminal deletions of 
      chromosome 14, except for seizures and retinal abnormalities. The objective of 
      the study was to determine if deletion of a specific chromosome region is a 
      possible explanation for the occurrence of seizures in patients with ring 
      chromosome 14. Patients diagnosed either with r(14) (six patients) or a deletion 
      of distal 14q (three patients) were analyzed by FISH (fluorescence in situ 
      hybridization) with BAC probes. We observed differences in the size of deletions 
      in the studied group. In two r(14) patients, we did not detect any deletion; the 
      four other patients had deletions of various sizes, ranging from 0.8 Mb to 5 Mb. 
      Two linear deletions were 3.2 Mb and 5.3 Mb in length, respectively; the third 
      case had an interstitial deletion that did not overlap with the others. The 
      deleted regions in ring chromosomes showed overlap with those in the two linear 
      terminal deletions. We conclude that there is unlikely to be a specific deleted 
      locus in 14q32.3 that predisposes r(14) patients to seizures or retinal 
      pigmentation. The cause is probably related to the formation of the ring itself 
      and the effect this may have on local chromatin structure.
FAU - Schlade-Bartusiak, Kamilla
AU  - Schlade-Bartusiak K
AD  - Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada.
FAU - Costa, Teresa
AU  - Costa T
FAU - Summers, Anne M
AU  - Summers AM
FAU - Nowaczyk, Malgorzata J M
AU  - Nowaczyk MJ
FAU - Cox, Diane W
AU  - Cox DW
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Cells, Cultured
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosome Mapping
MH  - Chromosomes, Artificial, Bacterial
MH  - *Chromosomes, Human, Pair 14
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
MH  - Seizures/*etiology/*genetics
MH  - Telomere/*genetics
EDAT- 2005/09/10 09:00
MHDA- 2008/02/28 09:00
CRDT- 2005/09/10 09:00
PHST- 2005/09/10 09:00 [pubmed]
PHST- 2008/02/28 09:00 [medline]
PHST- 2005/09/10 09:00 [entrez]
AID - 10.1002/ajmg.a.30942 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2005 Oct 15;138A(3):218-24. doi: 10.1002/ajmg.a.30942.