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Case Report
A chromosome 1q44 deletion in a 4-month-old girl; The first report in Korea
Joo Hyun Cho, Eun Song Song, Hee Na Kim, Burm Seok Oh, Young Youn Choi
Clin Exp Pediatr. 2014;57(6):292-296.   Published online June 30, 2014

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 borders of lips, a long upper lip with a smooth philtrum, a short and broad nose, epicanthal folds, apparently...

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