Fig. 2From: The homozygous pathogenic variant of the POMGNT1 gene identified using whole-exome sequencing in Iranian family with congenital hydrocephalusChromosomal analysis of amniotic cells. According to the results, no cytogenetic abnormalities were present, and the chromosomes seemed normal, without any cleavage or aneuploidy. It should be noted that the lack of chromosomal aberration does not rule out the presence of gene abnormalities. Even in cases where the karyotype appears to be normal, low-level mosaicism and other subtle genetic alterations may exist outside the scope of the preparationBack to article page