Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

Authors:	Adir Vardit Shahak Elena Dar Hanna Borochowitz Zvi U

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

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.

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