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.
Arm ; Chromosomes, Human, Pair 4 ; Chromosomes, Human, Pair 9 ; Cleft Lip ; Ear ; Fathers ; Fingers ; Growth and Development ; Hair ; Heart Septal Defects, Ventricular ; Hernia ; Humans ; Hypertelorism ; Infant ; Karyotype ; Korea ; Male ; Neck ; Nose ; Palate ; Parents ; Siblings ; Trisomy

The aim of this study was to determine the applicability of reverse transcription and polymerase chain reaction (RT/PCR) for routine diagnostic use and for the detection of enteroviral mentigitis. Primers were selected in the highly conserved part of the 5'-non-coding of the enteroviral genome. Enteroviral RNA was detected by the RT/PCR in routinely collected cerebrospinal fluids (CSF) of patients with aseptic meningitis who had admitted to the dept. Of Pediatrics. MinJoong Hospital, KonKuk University from May to July 1993. Enteroviral RNA was detected in one third of CSF specimen. Our results demonstrate the significance of the RT/PCR in the diagnosis of enteroviral meningitis.
Cerebrospinal Fluid ; Diagnosis ; Enterovirus* ; Genome ; Humans ; Meningitis ; Meningitis, Aseptic* ; Pediatrics ; Polymerase Chain Reaction* ; Reverse Transcription* ; RNA