A further case with a small supernumerary marker chromosome (sSMC) derived from chromosome 1--evidence for high variability in mosaicism in different tissues of sSMC carriers.
A prenatally ascertained case with a de novo small supernumerary marker chromosome (sSMC) derived from chromosome 1 is reported. Due to a fetal heart defect the parents decided in favour of an induced abortion. Postmortem, a molecular cytogenetic study on eleven formalin fixed, paraffin-embedded tissues of the fetus was performed, to further characterize the levels of mosaicism of the sSMC(1). sSMC presence varied between 13 and 62% within different tissues of sSMC carriers. This finding is something common in sSMC carriers and could explain why up to the present no clinical correlations for sSMC mosaicism and clinical outcome in the corresponding carriers could be established.
Fickelscher
Ina
I
Institute of Human Genetics and Anthropology, Kollegiengasse 10, Jena, Germany.
Starke
Heike
H
Schulze
Eberhard
E
Ernst
Günther
G
Kosyakova
Nadezda
N
Mkrtchyan
Hasmik
H
MacDermont
Kay
K
Sebire
Neil
N
Liehr
Thomas
T
D000025:Abortion, Eugenic; D000328:Adult; D000782:Aneuploidy; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009030:Mosaicism; D011247:Pregnancy; D011296:Prenatal Diagnosis; D032681:Spectral Karyotyping
D005819:Genetic Markers