Goldenhar sequence and mosaic trisomy 22

Autor:	William L. Gill, Gabriella Pridjian, Emmanuel Shapira
Rok vydání:	1995
Předmět:	Male Genetics Chromosomes Human Pair 22 Infant Newborn Dysostosis Aneuploidy Trisomy Goldenhar syndrome Karyotype Anatomy Biology medicine.disease Trisomy 22 Goldenhar Syndrome medicine Humans Hypertelorism medicine.symptom Genetics (clinical) Sequence (medicine)
Zdroj:	American Journal of Medical Genetics. 59:411-413
ISSN:	1096-8628 0148-7299
Popis:	We describe a term infant with facio-auriculo-vertebral {open_quotes}dysplasia{close_quotes} (Goldenhar sequence), hypertelorism, and mosaic trisomy 22: peripheral blood, 46, XY/47, XY,+22 (72%/28%); skin fibroblasts, 47, XY,+22(100%). This is the second report of Goldenbar anomaly with epibulbar dermoids in a live-born infant with aneuploidy. Hypertelorism is rare in Goldenhar sequence, but typical of trisomy 22. We recommend chromosome analysis in all patients with Goldenhar sequence. Those with hypertelorism may be more likely to have aneuploidy as well. 19 refs., 3 figs.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfba65235051f143bdc8386f521d1aea https://doi.org/10.1002/ajmg.1320590402 Zobrazit plný text záznamu Plný text