Prenatal diagnosis of a rare de novo 1q22-q25.1 chromosomal deletion syndrome using oligo array CGH

Clin Case Rep. 2018 Jun 13;6(8):1464-1469. doi: 10.1002/ccr3.1604. eCollection 2018 Aug.

Abstract

We present prenatal diagnosis of a case with a rare de novo interstitial deletion of 1q21-q25.1 by oligo array CGH and provide detailed information on unbalanced gene content and the breakpoints. The affected fetus was delivered at 37 weeks' gestation with a unique clinical phenotype.

Keywords: 1q22‐q25.1; cleft lip/palate; oligo array CGH; small hands and feet.

Publication types

  • Case Reports