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

Autor: Eun Song Song, Joo Hyun Cho, Hee Na Kim, Burm Seok Oh, Young Youn Choi

Publikováno v: Korean Journal of Pediatrics, Vol 57, Iss 6, Pp 292-296 (2014)
Korean Journal of Pediatrics

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 corner

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a320dd2fe35c5d032f0189268c04f66e
http://kjp.or.kr/upload/pdf/kjped-57-292.pdf

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

Autor: Cho JH; Department of Pediatrics, Chonnam National University Hospital, Gwangju, Korea., Song ES; Department of Pediatrics, Chonnam National University Hospital, Gwangju, Korea., Kim HN; Department of Pediatrics, Chonnam National University Hospital, Gwangju, Korea., Oh BS; Department of Pediatrics, Chonnam National University Hospital, Gwangju, Korea., Choi YY; Department of Pediatrics, Chonnam National University Hospital, Gwangju, Korea.

Publikováno v: Korean journal of pediatrics [Korean J Pediatr] 2014 Jun; Vol. 57 (6), pp. 292-6. Date of Electronic Publication: 2014 Jun 30.