Prenatally Diagnosed Sacrococcygeal Teratoma: A Unique Expression of Trisomy 1q

• Published in: Cancer genetics and cytogenetics Vol. 117; no. 1; pp. 84 - 86
• Main Authors: Wax, Joseph R, Benn, Peter, Steinfeld, Joy D, Ingardia, Charles J
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01.02.2000; Elsevier Science
• Subjects: Biological and medical sciences; Chromosome aberrations; Female; Fetal Diseases - diagnostic imaging; Fetal Diseases - genetics; Humans; Karyotyping; Medical genetics; Medical sciences; Pregnancy; Sacrococcygeal Region - pathology; Teratoma - diagnostic imaging; Teratoma - genetics; Ultrasonography, Prenatal; Chromosomal aberration; Cerebellum; Teratoma; Partial trisomy; Long arm; Pathogenesis; Diseases of the osteoarticular system; Genetic determinism; Prenatal; Cerebellar disease; Abnormal chromosome A1; Tumor; Fetus; Diagnosis; Sacrococcygeal; Sonography; Human; Hypoplasia; Nervous system diseases; Duplication; Cerebral ventricle; Congenital disease; Cerebral disorder; Case study; Phenotype; Malformation; Central nervous system disease; Echography; Abnormal chromosome
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/S0165-4608(99)00141-7

Partial duplication of the long arm of chromosome 1 has been observed in fetal intracranial teratomas. We sonographically diagnosed a 19-week fetus with sacrococcygeal teratoma, cerebral ventriculomegaly, and cerebellar hypoplasia. Chromosomal analysis of amniocytes showed an unbalanced translocation between chromosomes 1 and 15, resulting in trisomy 1q21→1qter. Duplication or over expression at more than one locus on the long arm of chromosome 1 may be required for the development of an extra-gonadal teratoma.