PMID- 8737976
OWN - NLM
STAT- MEDLINE
DCOM- 19961122
LR  - 20190816
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 49
IP  - 3
DP  - 1996 Mar
TI  - Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism.
PG  - 124-9
AB  - Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder characterized 
      by skin abnormalities that appear in infancy, skeletal abnormalities, juvenile 
      cataracts and other manifestations of premature aging, and a predisposition to 
      malignancy. The diagnosis is made on clinical grounds as no consistent laboratory 
      test has been identified. Chromosome studies have been reported for only three 
      patients with RTS and in two of these three, trisomy 8 mosaicism was found. We 
      performed a variety of cytogenetic and molecular genetic studies on two siblings 
      with RTS and on their phenotypically normal parents. Two chromosomally abnormal 
      clones involving either trisomy 8 or i(8q) were found in both patients with RTS. 
      These clones were present in vivo, as they were seen in interphase buccal smears 
      and lymphocytes from unstimulated preparations using both conventional 
      cytogenetic studies and fluorescence in situ hybridization (FISH) with a 
      centromere probe for chromosome 8. These results suggest that RTS is associated 
      with in vivo clonal chromosomal rearrangements causing an acquired somatic 
      mosaicism.
FAU - Lindor, N M
AU  - Lindor NM
AD  - Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA.
FAU - Devries, E M
AU  - Devries EM
FAU - Michels, V V
AU  - Michels VV
FAU - Schad, C R
AU  - Schad CR
FAU - Jalal, S M
AU  - Jalal SM
FAU - Donovan, K M
AU  - Donovan KM
FAU - Smithson, W A
AU  - Smithson WA
FAU - Kvols, L K
AU  - Kvols LK
FAU - Thibodeau, S N
AU  - Thibodeau SN
FAU - Dewald, G W
AU  - Dewald GW
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Chromosome Aberrations
MH  - Female
MH  - Genes, p53
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Mosaicism/*genetics
MH  - Pedigree
MH  - Rothmund-Thomson Syndrome/drug therapy/*etiology/*genetics
MH  - Sarcoma/complications/drug therapy
EDAT- 1996/03/01 00:00
MHDA- 1996/03/01 00:01
CRDT- 1996/03/01 00:00
PHST- 1996/03/01 00:00 [pubmed]
PHST- 1996/03/01 00:01 [medline]
PHST- 1996/03/01 00:00 [entrez]
AID - 10.1111/j.1399-0004.1996.tb03270.x [doi]
PST - ppublish
SO  - Clin Genet. 1996 Mar;49(3):124-9. doi: 10.1111/j.1399-0004.1996.tb03270.x.