A Case of Trisomy 10p with Vertebral Anomaly and Hypospadias / 대한주산의학회잡지

ABSTRACT

Tisomy 10p syndrome is a rarely reported chromosomal abnormality with distinct craniofacial anomalies, severe growth and psychomotor retardation, osteoarticular anomalies, and organ malformations. Most of reported cases were due to translocation of 10p to the other chromosome. Rare causes are tandem duplication, maternal pericentric inversion, isochromosome formation. We experienced newborn infant with craniofacial anomaly, hypospadias and extra vertebra and rib. The characteristic craniofacial anomalies were frontal bossing, wide opened fontanel and suture line, sparse eyebrow, turtle beak mouth, Cytogenic analysis showed 46, XY, rec(10) dup(10p) inv (10)(p11.2q26.1). Karyotype of the father was normal(46, XY). However, karyotype of the mother showed 46, XX, inv(10)(p11.2q26.1). Therefore, chromosome 10 recombination resulting from a maternal pericentric inversion formed trisomy 10p. We report rare chromosome abnormality syndrome, trisomy 10p, with brief review.