Ethnicity has a multiplex impact upon the risk of a full mutation expansion among female heterozygotes for FMR1 premutation

To evaluate whether ethnicity affects the risk of full mutation expansion among females heterozygous for FMR1 premutation. Women who carry the FMR1 premutation alelle of Jewish origin who underwent fragile X prenatal diagnosis between 2011 and 2018 in two medical centers in Israel were included. The...

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Veröffentlicht in:	Genetics in medicine 2021-06, Vol.23 (6), p.1023-1027
Hauptverfasser:	Domniz, Noam, Levavi, Liat Ries, Berkenstadt, Michal, Pras, Elon, Cohen, Yoram, Raanani, Hila, Goldstein, Dana Brabbing, Yaron, Yuval, Elizur, Shai, Ben-Shachar, Shay
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Biomedical and Life Sciences Biomedicine Ethnicity Female Fetuses Fragile X Mental Retardation Protein - genetics Fragile X Syndrome - diagnosis Fragile X Syndrome - genetics Heterozygote Human Genetics Humans Israel - epidemiology Laboratory Medicine Mutation Trinucleotide Repeat Expansion - genetics
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