A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea

• Autori principali: Joo Hyun Cho (Autore), Eun Song Song (Autore), Hee Na Kim (Autore), Burm Seok Oh (Autore), Young Youn Choi (Autore)
• Natura: Libro
• Pubblicazione: Korean Pediatric Society, 2014-06-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

The deletion of the distal long arm of chromosome 1 is associated with a characteristic facial appearance and a pattern of associated malformations. Characteristic manifestations include a round face with prominent 'cupid's bow' and downturned corners of the mouth, thin vermilion bord...