PMID- 9482641
OWN - NLM
STAT- MEDLINE
DCOM- 19980326
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 75
IP  - 4
DP  - 1998 Feb 3
TI  - FISH and molecular study of autosomal supernumerary marker chromosomes excluding 
      those derived from chromosomes 15 and 22: I. Results of 26 new cases.
PG  - 355-66
AB  - The chromosomal origins and in some cases the molecular composition of 26 
      autosomal supernumerary marker chromosomes (SMC) were identified using combined 
      fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) 
      techniques. Fifteen were de novo, 4 maternally and 2 paternally transmitted and 
      in 5 cases the parental origin is not known. Eleven cases were non-mosaic and 
      fifteen cases had SMC cell lines ranging from 8-87%. Ten cases were ascertained 
      prenatally, nine postnatally with abnormal phenotypes, three with poor 
      reproductive histories and four co-incidentally. Five SMC were small rings from 
      chromosomes 3, 6 (2 cases), 20 and 21; 8 were bisatellited from chromosomes 13/21 
      (4 cases), 14 (3 cases) and 14/22 (1 case). The remaining 13 appeared to be 
      minutes comprising centromeric material only from chromosomes 1, 4, 12, 13/21 (2 
      cases), 14 (3 cases), 16 (2 cases), 19; 5/19, and a centric fusion involving 13 
      or 21 and 14. Euchromatin was detected in 9 out of 18 SMC tested with paints 
      and/or PCR, and abnormal phenotypes were most commonly observed in patients with 
      small ring shaped SMCs containing euchromatic sequences. Uniparental paternal 
      isodisomy (UPD) for chromosome 6 was detected in one patient but was the only 
      example of UPD for the normal homologues in association with an autosomal SMC in 
      an overall total of 30 cases examined.
FAU - Crolla, J A
AU  - Crolla JA
AD  - Wessex Regional Genetics Laboratory, Salisbury District Hospital, Wiltshire, 
      United Kingdom. jcrolla@hgmp.mrc.ac.uk
FAU - Long, F
AU  - Long F
FAU - Rivera, H
AU  - Rivera H
FAU - Dennis, N R
AU  - Dennis NR
LA  - eng
PT  - Case Reports
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 (Genetic Markers)
SB  - IM
CIN - Prenat Diagn. 2005 Jul;25(7):616-8. PMID: 16034813
MH  - Chromosome Aberrations/*genetics
MH  - Chromosome Disorders
MH  - Chromosomes, Human, Pair 15/*genetics
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Female
MH  - Genetic Markers/*genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Male
MH  - Pedigree
MH  - Phenotype
MH  - Polymerase Chain Reaction
EDAT- 1998/03/03 03:05
MHDA- 2000/06/20 09:00
CRDT- 1998/03/03 03:05
PHST- 1998/03/03 03:05 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1998/03/03 03:05 [entrez]
AID - 10.1002/(SICI)1096-8628(19980203)75:4<355::AID-AJMG4>3.0.CO;2-P [pii]
AID - 10.1002/(sici)1096-8628(19980203)75:4<355::aid-ajmg4>3.0.co;2-p [doi]
PST - ppublish
SO  - Am J Med Genet. 1998 Feb 3;75(4):355-66. doi: 
      10.1002/(sici)1096-8628(19980203)75:4<355::aid-ajmg4>3.0.co;2-p.