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Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9.

ABSTRACT: Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify structural abnormalities that result in aneuploidy.

SUBMITTER: Beaudry SM

PROVIDER: S-EPMC8077311 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature

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Case report of a pseudo-isodicentric chromosome 9 resulting in mosaic trisomy 9.

Beaudry Sarah M SM Shchelochkov Oleg O Trapane Pamela P Darbro Benjamin B Nagy Jaime M W JMW

Clinical case reports 20210309 4

Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify structural abnormalities that result in aneuploidy. ...[more]

PMID: 33936691

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