Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies

Cytogenet Genome Res. 2019;159(3):137-142. doi: 10.1159/000504238. Epub 2019 Nov 30.

Abstract

Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis revealed a double mosaic with 2 independent abnormal cell lines and the absence of 46,XX and 48,XXX,+14 cell lineages. The patient showed most of the clinical characteristics of mosaic trisomy 14. Analysis of autosomal DNA markers in the proband's blood sample did not support the presence of chimerism. Further analysis of chromosome X DNA markers suggests that the extra X chromosome most probably arose as a consequence of nondisjunction in meiosis II in the maternal lineage.

Keywords: Array CGH; Double gonosomal/autosomal trisomy; Mosaic trisomy 14.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 14
  • Chromosomes, Human, X* / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Mosaicism*
  • Sex Chromosome Aberrations
  • Sex Chromosome Disorders of Sex Development / genetics*
  • Trisomy / genetics*

Supplementary concepts

  • Chromosome 14, trisomy mosaic
  • Triple X syndrome