산전 양수검사에 의해 진단된 부계기원의 Partial Trisomy 4q = A Case of Prenatally Detected Partial Trisomy 4q of Paternal Origin

다국어 초록 (Multilingual Abstract)

The partial trisomy 4q is a condition in which an additional segment of the long arm of a chromosome(4q27→qter)is present in the chromosome set. The case described here was due to an unfavorable segregation of a paternal reciprocal translocation 〔t(4;15)(q27;p11)〕, and was detected by prenatal midtrimester amniocentesis. The characteristics of trisomy 4q include depressed nasal bridge, microcephaly, Cul de poule (or pursed mouth), large and low-set ears, webbed neck, mental retardation, and other associated internal anomalies. The pregnancy was terminated during the midtrimester. The gross immaturity of the terminated fetus made it difficult to document adequately the presence of the above clinical features. Antenatal detection of this rare chromosomal anomaly has not been described elsewhere.