ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0021.6-10 | New Clinical Insights into Klinefelter Syndrome | ESPEYB21

6.10. Detection of chromosomal aneuploidy in ancient genomes

K Anastasiadou , M Silva , T Booth , L Speidel , T Audsley , C Barrington , J Buckberry , D Fernandes , B Ford , M Gibson , A Gilardet , I Glocke , K Keefe , M Kelly , M Masters , J McCabe , L McIntyre , P Ponce , S Rowland , J Ruiz Ventura , P Swali , F Tait , D Walker , H Webb , M Williams , A Witkin , M Holst , L Loe , I Armit , R Schulting , P Skoglund

Brief Summary: This study marks significant progress in understanding ancient genomes, particularly in deciphering chromosomal sex, aneuploidies, and their broader historical and societal implications. By extracting and analyzing DNA from ancient remains, researchers have uncovered new insights into disorders of sex development (DSDs) that were previously inaccessible. These authors pioneered a computational method to identify sex chromosomal aneuploidies. This approach indepe...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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