PMID- 8641694
OWN - NLM
STAT- MEDLINE
DCOM- 19960712
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 97
IP  - 6
DP  - 1996 Jun
TI  - Isolation of the human chromosome 22q telomere and its application to detection 
      of cryptic chromosomal abnormalities.
PG  - 765-9
AB  - A number of human telomeres have been successfully cloned using a modified yeast 
      artificial chromosome (YAC) vector (half-YAC) cloning strategy, but to date, 
      human chromosome 22q has not been identified by this approach. We used an 
      alternative approach of genomic walking, starting from a subtelomeric sequence, 
      Tel-Bam3.4. present on a number of human chromosomes including 22q. This approach 
      was successful in the development of a cosmid contig representing the terminal 
      140 kb of human chromosome 22q, providing telomeric closure of the genetic and 
      physical maps for 22q. The most distal region of the contig contains subtelomeric 
      repeats which crosshybridize to a number of chromosomes, while the proximal 
      sequences are unique for 22q. The unique sequence cosmid was used as a 
      22qter-specific probe for fluorescence in situ hybridization (FISH) analysis, 
      which confirmed that this cosmid was distal to the most telomeric marker 
      previously available for chromosome 22. In addition, this cosmid was used to 
      document a 22q terminal deletion that was not detectable by conventional 
      cytogenetic analysis. Unique telomere-specific FISH probes such as this one will 
      have significant diagnostic value in the detection of cryptic deletions and 
      translocations in patients with unexplained mental retardation and other patient 
      populations.
FAU - Ning, Y
AU  - Ning Y
AD  - Diagnostic Development Branch, National Institutes of Health, Bethesda, MD 20892, 
      USA.
FAU - Rosenberg, M
AU  - Rosenberg M
FAU - Biesecker, L G
AU  - Biesecker LG
FAU - Ledbetter, D H
AU  - Ledbetter DH
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (DNA Probes)
RN  - EC 3.1.6.8 (Cerebroside-Sulfatase)
SB  - IM
MH  - Cerebroside-Sulfatase/genetics
MH  - *Chromosome Deletion
MH  - Chromosome Mapping/methods
MH  - Chromosome Walking/methods
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Cloning, Molecular/methods
MH  - Cosmids/genetics
MH  - DNA Probes
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Intellectual Disability/genetics
MH  - *Telomere
EDAT- 1996/06/01 00:00
MHDA- 1996/06/01 00:01
CRDT- 1996/06/01 00:00
PHST- 1996/06/01 00:00 [pubmed]
PHST- 1996/06/01 00:01 [medline]
PHST- 1996/06/01 00:00 [entrez]
AID - 10.1007/BF02346187 [doi]
PST - ppublish
SO  - Hum Genet. 1996 Jun;97(6):765-9. doi: 10.1007/BF02346187.