Use of tissue samples in diagnosing diploid triploid mosaicism.

Diploid triploid mosaicism (DTM) is a rare genetic condition where there is an extra haploid set of chromosomes in mosaic form. We describe an infant for whom DTM was detected antenatally through amniocentesis. Prenatal counselling suggested a guarded prognosis. The infant's phenotypic presentation and postnatal course reflect the varied presentation and prognosis associated with DTM. We highlight potential challenges in diagnosing DTM postnatally, with many having normal blood karyotype with 46 chromosomes. © BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ.

Citation

Oisín Mahon, Áine Fox, Sally Ann Lynch, Katie Cunningham. Use of tissue samples in diagnosing diploid triploid mosaicism. BMJ case reports. 2022 Dec 08;15(12)

Mesh Tags

PMID: 36593622

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