Table 1.

Different cases depicting the (epi) genotypical profiles of various genetic diseases or malformative syndromes (contiguous gene syndromes).

	Present case	Serra et al. [11]	Piro et al. [12]	Serra et al. [13]	Serra et al. [14]
Genetic test performed	Karyotyping and FISH	Methylation sensitive—multiplex ligation-dependent probe amplification (MS-MLPA)	Array comparative genomic hybridization (a-CGH)	Array comparative genomic hybridization (a-CGH)	Array comparative genomic hybridization (aCGH)
Genotype	18p 11.1 microdeletion	Hypomethylation of KCNQ1OT1, with a normal pattern of methylation of the imprinting center (IC) 1	2q13 deletion of 1.7 Mb	19p13.3 microdeletion, of 1.27 Mb and including MAP 2 K2 gene	Terminal deletion at 11q24.1-q25
Phenotype resembling	Trisomy 18	Beckwith–Wiedemann syndrome	2q13 deletion	Cardio-facio-cutaneous syndrome (CFCS)	Jacobsen syndrome