PMID- 9332666
OWN - NLM
STAT- MEDLINE
DCOM- 19971125
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 72
IP  - 3
DP  - 1997 Oct 31
TI  - Familial transmission of a small supernumerary marker chromosome 8 identified by 
      FISH: an update.
PG  - 339-42
AB  - A father and his 2 daughters were previously determined to carry a small, 
      supernumerary marker chromosome [Chudley et al., 1983]. The origin of this marker 
      could not be determined by standard cytogenetic techniques. In this study, 
      fluorescence in situ hybridization (FISH) studies identified the marker 
      chromosome as a pericentric derivative of chromosome 8. The father has low grade 
      mosaicism for this marker and is phenotypically normal. Both daughters are 
      non-mosaic and show developmental delays and somewhat differing clinical 
      findings. The phenotypes of the 2 sisters are compared with those previously 
      reported for supernumerary der(8) patients. This is the first report of familial 
      transmission of a supernumerary der(8) marker chromosome.
FAU - Rothenmund, H
AU  - Rothenmund H
AD  - Department of Human Genetics, University of Manitoba, Winnipeg, Canada.
FAU - Chudley, A E
AU  - Chudley AE
FAU - Dawson, A J
AU  - Dawson AJ
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adolescent
MH  - *Chromosomes, Human, Pair 8
MH  - Female
MH  - Gene Frequency
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Intellectual Disability/genetics
MH  - Male
MH  - Mosaicism
MH  - Pedigree
MH  - Ring Chromosomes
MH  - *Trisomy/diagnosis
RF  - 10
EDAT- 1997/10/23 22:26
MHDA- 2000/06/20 09:00
CRDT- 1997/10/23 22:26
PHST- 1997/10/23 22:26 [pubmed]
PHST- 2000/06/20 09:00 [medline]
PHST- 1997/10/23 22:26 [entrez]
AID - 10.1002/(SICI)1096-8628(19971031)72:3<339::AID-AJMG17>3.0.CO;2-U [pii]
AID - 10.1002/(sici)1096-8628(19971031)72:3<339::aid-ajmg17>3.0.co;2-u [doi]
PST - ppublish
SO  - Am J Med Genet. 1997 Oct 31;72(3):339-42. doi: 
      10.1002/(sici)1096-8628(19971031)72:3<339::aid-ajmg17>3.0.co;2-u.