We experinced a case of 4p+ syndrome in male infant. He had multiple anomalies such as flat occiput, hypertelorism, low set malformed ear, lower anterior hair line, depressed nose, broad nasal bridge, bilateral complete cleft lip and palate,
short
neck,
unusual position of fingers, ventricular septal defect and umblical hernia. He menifested growth and developmental retardation.
Karyotype with banding revealed an extra short arm of chromosome 4. The mother's karyotype was normal. His father and father's sister had a translocation between the short arm of chromosome 4 and the short arm of chromosome 9; their karyotypes
were
46,
XY, t(4;9) and 46, XX, t(4;9), respectively. In this case, trisomy 4p was the result of parental balanced translocatiom. As this is the first case in Korea, it is worthwhile to report with reviewing literature.
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