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KMID : 0384119930130010165
Korean Journal of Clinical Pathology
1993 Volume.13 No. 1 p.165 ~ p.170
A Case of 4q3 Monosomy.
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Abstract
Syndrome of 4q3 deletion(4q3 monosomy) is characterized by abnormal shape of the skull, short nose with flat bridge, cleft lip/palate, micrognathia, and oropharyngeal incoordination. Okay, et al. Described the first case of 4q monosomy using
isotopic
banding in 1967 and Golbus, et al. Also reported the same anomaly using G-banding in 1973. We report a case of 4q3 monosomy who was 2 day-old male neonate and showed typical characteristics of the syndrome.
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