Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome

Vardit Adir; Elena Shahak; Hanna Dar; Zvi U Borochowitz

doi:10.1089/109065703322783734

Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome

Genet Test. 2003 Winter;7(4):345-6. doi: 10.1089/109065703322783734.

Authors

Vardit Adir¹, Elena Shahak, Hanna Dar, Zvi U Borochowitz

Affiliation

¹ The Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, Technion-Rappaport Faculty of Medicine, Haifa 31048, Israel.

PMID: 15000814
DOI: 10.1089/109065703322783734

Abstract

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.

MeSH terms

Aneuploidy*
Blotting, Southern / methods
Chromosomes, Human, X*
Female
Fragile X Mental Retardation Protein
Fragile X Syndrome / diagnosis
Fragile X Syndrome / genetics*
Genetic Testing
Heterozygote
Humans
Nerve Tissue Proteins / genetics
RNA-Binding Proteins / genetics

Substances

FMR1 protein, human
Nerve Tissue Proteins
RNA-Binding Proteins
Fragile X Mental Retardation Protein