Spontaneous abortions are mostly caused by aneuploidy, However in a substantional number of cases available tissue samples will not grow in cell culture needed for the cytogenetic analysis. Multiplex ligation dependent probe amplification can detect precise number of copis of multiple loci simultaneously and in case of aneuploidy additional or missing chromosomes in sample of genomic DNA.
COBISS.SI-ID: 4160831
Background: Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed. Results: Here we present a case study of a 5-year-old girl with de novo submicroscopic deletion of chromosome 11q22.3 with mild mental retardation and facial dysmorphism. A standard cytogenetic analysis did not reveal any structural aberrations. A contrary array-CGH analysis indicated a small deletion of 11q22.3. Discussion: To our knowledge, this is the smallest 11q22.3 deletion reported in literature, containing nine RefSeq genes. Although none of the deleted genes are obvious candidates for the features observed in our patient, genes CUL5 and SLN could play a key role in the features described.
COBISS.SI-ID: 4029247
Hypervariable microsatellite genetic markers offer simple, reliable and fastndetection of genetic make-up or identity. Consequently the genetic relationships between samples of genomic DNA from a variety of sources.
COBISS.SI-ID: 3206956