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

• Main Authors: Joo Hyun Cho (Author), Eun Song Song (Author), Hee Na Kim (Author), Burm Seok Oh (Author), Young Youn Choi (Author)
• Format: Book
• Published: Korean Pediatric Society, 2014-06-01T00:00:00Z.
• Subjects: article
• Online Access: 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...