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Journal of the Korean Society of Neonatology 2000;7(1):64-67.
Published online January 1, 2001.
A Case of 2q-Syndrome [46, XX, del (2) (q33q35)].
Dong Hyeon Choi, Eun Yeong Seol, Moon Ki Cho, Chel Shon
Department of Pediatrics, Mokpo Catholic Hospital, Mok-Po, Korea.
Abstract
A long arm deletion of chromosome 2 is very rarely reported. Particular deletion uniformly resulted in developmental delays, craniofacial changes, and occasionally resulted in microcephaly, low set ears, and hand and foot abnormalities. We experienced a case of partial monosomy 2 in a 5-months-old girl, who showed low set ears, hypertelorism, low nasal bridges, small mouth, cleft palate, inguinal hernia. Chromosome analysis on a G banding with high resolution showed a deletion of the long arm of chromosome 2. Her karyotype was designated as 46, XX, del (2) (q33q35). A brief review of the literature is also presented.
Key Words: Partial monosomy 2, Chromosome abnormality, Craniofacial changes


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