Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome.
We report herein two cases where detection of X chromosome aneuploidy (cytogenetically proved 45,X/46XX and 47,XXX) was made possible by molecular diagnosis during population-based carrier screening for Fragile X syndrome, using Southern blot analysis. This study emphasizes the value of molecular analysis for gene dosage to suggest chromosomal aneuploidy.
Adir
Vardit
V
The Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, Technion-Rappaport Faculty of Medicine, Haifa 31048, Israel.
Shahak
Elena
E
Dar
Hanna
H
Borochowitz
Zvi U
ZU
D000782:Aneuploidy; D015139:Blotting, Southern / Q000379:methods; D041321:Chromosomes, Human, X; D005260:Female; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D009419:Nerve Tissue Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human