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Mosaic chromosome 18 anomaly delineated in a child with dysmorphism using a three-pronged cytogenetic techniques approach: a case report

BACKGROUND: A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare. CASE PRESENTATION: A 7-year-old female was referred for...

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Библиографические подробности
Опубликовано в: :BMC Med Genomics
Главные авторы: Sheth, Harsh, Trivedi, Sunil, Liehr, Thomas, Patel, Ketan, Jain, Deepika, Sheth, Jayesh, Sheth, Frenny
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2020
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7517678/
https://ncbi.nlm.nih.gov/pubmed/32972420
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-020-00796-9
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