The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

Table 4

Results of genetic testing in all enrolled patients. All genomic coordinates are based on the NCBI36/hg18 reference genome.

Patient number	Cytogenetic/molecular tests	Detected variant (start–end hg18)	Size (Mb)	Inheritance
1	Array CGH	arr 16q23.1 (77,445,915–78,190,209) dup	0.744–0.827	Unknown
2	GTG karyotype	del(17)(p11.2)	—	De novo
3	Fluorescence in situ hybridization	ish del(17); (p11.2p11.2)	—	De novo
4	Array CGH	arr 5q14.3 (88,121,748–88,232,276) del	0.111–0.148	De novo
5	DYT1 PCR	c.907_909delGAG	—	De novo
6	GCH1 sequencing	Not found	—	—
7	GALC and PSAP sequencing	30 kb deletion encompassing exons 11–17 within the GALC gene; mutation in exon 11 (c.1186C>T, p.R396W)	—	—