Abstract
BackgroundX&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear.MethodsThis retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age).ResultsFrom 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of 46,XX uniparental disomy; 2 cases of 46,XY/46,XX; 23 cases of mosaicism of unknown type; 2 cases of 47,XX,i(X)(q10). Paternal findings include: 2 cases of 47,XXY (1 mosaic); 10 cases of 47,XYY (1 mosaic); 4 partial Y deletions.ConclusionsSingle chromosome aneuploidy was present in one of every 1,439 individuals considered in this study, showing 47,XXX; 47,XX,i(X)(q10); 47,XYY; 47,XXY, partial Y deletions, and a high level of mosaicism for 45,X. This expands significantly our understanding of X&Y chromosomal variations and fertility issues, and is critical for families and adults affected by these disorders. This current and extensive information on fertility will be beneficial for genetic counseling on prenatal diagnoses as well as for newly diagnosed postnatal cases.
Highlights
X and Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number variations, with an estimated incidence in the general population between 1 in 400 to 1 in 1,000 [1,2,3,4] for each of the sex chromosome syndromes, with complex aneuploidies occurring far less frequently [5]
Single chromosome aneuploidy was present in one of every 1,439 individuals considered in this study, showing 47,XXX; 47,XX,i(X)(q10); 47,XYY; 47,XXY, partial Y deletions, and a high level of mosaicism for 45,X
This expands significantly our understanding of X&Y chromosomal variations and fertility issues, and is critical for families and adults affected by PLOS ONE | DOI:10.1371/journal.pone
Summary
X and Y chromosomal aneuploidies (the presence of an abnormal number of sex chromosome) are among the most common human whole-chromosomal copy number variations, with an estimated incidence in the general population between 1 in 400 to 1 in 1,000 [1,2,3,4] for each of the sex chromosome syndromes, with complex aneuploidies occurring far less frequently [5]. The population-based incidence and prevalence of the sex chromosomal aneuploidies (SCA) in the general adult population continue to be unclear. Refer to instances where 1 or 3 copies of a particular chromosome are present instead of the expected 2. Uniparental disomy (UPD) refers to when the expected 2 copies of a chromosome are present, but were both received from the same parent, rather than 1 from each. X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the childbearing population is unclear
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