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

• Autori principali: Harsh Sheth (Autore), Sunil Trivedi (Autore), Thomas Liehr (Autore), Ketan Patel (Autore), Deepika Jain (Autore), Jayesh Sheth (Autore), Frenny Sheth (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2020-09-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract 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 refer...