A number of genetic screenings can be performed to diagnose this syndrome, including array-based comparative genomic hybridization (CGH), fluorescence in situ hybridization (FISH) analysis, karyotyping, and multiplex ligation-dependent probe amplification (MLPA) based techniques. Post-natal diagnoses are more common, but antenatal diagnoses are also possible through some of these genetic screenings. Array-based comparative genomic hybridization (CGH) CGH involves the isolation of DNA from the two sources being compared, the labelling of each sample with fluorophores of different colors, denaturation to form single stranded DNA, and the hybridization of the two resulting samples to metaphase chromosomes. Then the differently colored fluorescent signals are compared along each chromosome to identify copy number changes. However, CGH is only able to detect unbalanced chromosomal abnormalities, such as the microdeletion which causes<unk> . FISH analysis FISH analysis uses fluorescent probes that only bind a certain part of a nucleic acid sequence, originally developed to identify the presence or absence of certain DNA sequences on chromosomes. After the fluorescent probe is bound to the chromosomes, fluorescence microscopy is used to find its location on the chromosomes. Karyotyping In general, karyotyping refers to the use of metaphase chromosome imaging to determine an individual's chromosome complement. A karyotype displays the number of chromosomes as well as chromosomal abnormalities through specific banding patterns. In the case of<unk> , the microdeletion is extremely small, so karyotyping is probably a more difficult technique to use in screening for this disease. MLPA based techniques Using the multiplex PCR which allows amplification of multiple targets with a single primer pair, MLPA detects copy number changes which are then analyzed by software programs. Copy number changes refer to deletions or duplications, therefore making these techniques able to diagnose<unk>  by detecting its causal microdeletion.
Nablus mask-like facial syndrome
Atypical facial pain
Pellagra
Onychotillomania
Acro–dermato–ungual–lacrimal–tooth syndrome
Mongolian idiocy
Vitreous touch syndrome
Oral galvanism