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

MASSARA, LUCÍA S.; DELEA, MARISOL; ESPECHE, LUCÍA; BRUQUE, CARLOS D.; OLIVERI, JAEN; BRUN, PALOMA; FURFORO, LILIAN; DAIN, LILIANA; ROZENTAL, SANDRA

CYTOGENETIC AND GENOME RESEARCH

KARGER

Año: 2019

1424-8581

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.