Effects of sex chromosome dosage on corpus callosum morphology in supernumerary sex chromosome aneuploidies

Biology of Sex Differences
Benjamin S C WadeJay N Giedd

Abstract

Supernumerary sex chromosome aneuploidies (sSCA) are characterized by the presence of one or more additional sex chromosomes in an individual's karyotype; they affect around 1 in 400 individuals. Although there is high variability, each sSCA subtype has a characteristic set of cognitive and physical phenotypes. Here, we investigated the differences in the morphometry of the human corpus callosum (CC) between sex-matched controls 46,XY (N =99), 46,XX (N =93), and six unique sSCA karyotypes: 47,XYY (N =29), 47,XXY (N =58), 48,XXYY (N =20), 47,XXX (N =30), 48,XXXY (N =5), and 49,XXXXY (N =6). We investigated CC morphometry using local and global area, local curvature of the CC boundary, and between-landmark distance analysis (BLDA). We hypothesized that CC morphometry would vary differentially along a proposed spectrum of Y:X chromosome ratio with supernumerary Y karyotypes having the largest CC areas and supernumerary X karyotypes having significantly smaller CC areas. To investigate this, we defined an sSCA spectrum based on a descending Y:X karyotype ratio: 47,XYY, 46,XY, 48,XXYY, 47,XXY, 48,XXXY, 49,XXXXY, 46,XX, 47,XXX. We similarly explored the effects of both X and Y chromosome numbers within sex. Results of shape-based met...Continue Reading

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Citations

Jun 6, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Amy A BlumlingSharron Close
Feb 1, 2020·Current Opinion in Obstetrics & Gynecology·Carole A Samango-SprouseAndrea L Gropman
Nov 22, 2016·Journal of Neuroscience Research·Neda Jahanshad, Paul M Thompson
May 10, 2020·Indian Journal of Pediatrics·Indar Kumar Sharawat, Prateek Kumar Panda

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Software Mentioned

MATLAB
R
Image Processing Toolbox
MATLAB®
EDMA
BLDA
house R
RCircos
MIPAV

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