Two patients (patients 1 and 2) who carried the marker (SMC) were evaluated because of mental retardation and minor facial anomalies. Both daughters are non‐mosaic and show developmental delays and somewhat differing clinical findings. Am. Chromosome 8; Human chromosome 8 pair after G-banding. as i understand it & am often wrong so don’t write the gospel around it, there are 23 paired human chromosomes (cx). Chromosome 8 is one of the 23 pairs of chromosomes in humans. Moreover, uniparental disomy (UPD) using microsatellite analysis was excluded. Supernumerary ring chromosome 8: Clinical and molecular cytogenetic characterization in a case report The phenotypes of the 2 sisters are compared with those previously reported for supernumerary der(8) patients. People normally have two copies of this chromosome. Genet. Below you will find our free Information Guides to specific chromosome and gene disorders, as well as guides translated into various languages. if biologists detect trisomy 8, there is one extra cx 8. my wife WAS a pentasomy 8 which means 3 extra cx 8’s were being made by the body.

Do scroll down to the bottom of the ‘Chromosome Disorder Guides – English’ table to view guides and reports on a wide range of related general topics like DNA sequencing, deletions and microdeletions, inversions etc. CAS One is from mother, one is from father.
normal cx counts should be a “bisomy” # like a bisomy 8 (totally my wording).

Chromosome 8-derived supernumerary ring/marker (or Ring Chromosome 8 Syndrome) is a rare chromosomal anomaly comprising variable parts of chromosome 8; The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 … Am J Med Genet 2000; 90 :276–282. We report on the use of fluorescence in situ hybridization (FISH) with specific chromosome 8 arm painting to characterize further small supernumerary chromosome 8-derived markers/rings (SMC/SRC) identified in three patients. This is the first report of familial transmission of a supernumerary der(8) marker chromosome. Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting. To our knowledge a total of 25 cases, confirmed by FISH, have been reported with either supernumerary marker or ring chromosome 8. J. Med. Chromosome 8 spans about 145 million base pairs (the building material of DNA) and represents between 4.5 and 5.0% of the total DNA in cells. The ring origin has been detected from the short arm of chromosome 8, resulting in r(8)(p10p23.1).