Case Report
A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype
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 |
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