Mosaic variant of trisomy on chromosome 8 (Warkany syndrome): report on a rare clinical case in a newborn boy after IVF fertilization

Abstract

Varkani syndrome or trisomy 8 mosaicism (T8M) - is a described chromosomal anomaly with a frequency of 1 : 25,000 to 1 : 50,000 births, which is more common in men than in women (5 : 1). In the Department of Pediatric Surgery at Almazov NMRC, a 28-year-old woman was admitted at 39 weeks' gestation with a aggravated somatic history. Pregnancy occurred with the support of auxiliary reproductive technologies: extorporepical fertilization due to the male factor, overpermation and asthenospermia caused by mumps transferred in childhood. Antenatally diagnosed: multiple congenital malformations of the fetus: agenesis of the corpus callosum, triventricularhydrocephalus, macrocephaly, bilateral ureterohydronephrosis; megacystis. The spouses were karyotyped, karyotypes 46, XX - normal female and 46, XY - normal male. According to the results of the karyogram, the fetal karyotype is 46, XY - normal male. From the first day of life, the child has clinical epileptic myolonic generalized attacks. According to the results of the study: Neurosonography confirmed the presence of a malformation of the brain. Echocardiography: Ventricular septal defect (VSD). Ultrasound of the abdominal organs revealed bilateral ureterohydronephrosis with expansion of the pelvicalyceal system and ureters. At the age of 28 days, due to the existing neurogenic disorder of the function of the bladder against the background of a fixed spinal cord in order to constant urine, vesicostomy is performed. Performed diagnostic laparoscopy: in the right iliac region spreads education with a diameter of 2 cm, which is a diverticular-cystic doubling of the ileum. A wedge-shaped resection of the base of the diverticulum was performed, the operation was completed by vesicostomy. Discharged home in a satisfactory condition at the age of 2 months. As a result of karyotyping of the newborn, the result mos47, XY, +8[7]/46, XY [9] was obtained - a mosaic variant of trisomy on chromosome 8. Mosaicism of trisomy 8 rare chromosomal anomaly. The clinical case described by us is characterized by a combination of severe congenital defects, which were not previously reported. This is the first time of the birth of a child with a trisomy of 8 chromosome after auxiliary reproductive technologies: extracurporeal fertilization.