The duplication involved in PTLS is usually large enough to be detected through G-banding alone, though there is a high false negative rate. To ascertain the diagnosis when karyotyping results are unclear or negative, more sophisticated techniques such as subtelomeric fluorescent in-situ hybridization analysis and array comparative genomic hybridization (aCGH) may be used.
Potocki–Lupski syndrome
Young–Madders syndrome
Lujan–Fryns syndrome
Fox–Fordyce disease
Townes–Brocks syndrome
Frasier syndrome
Young–Simpson syndrome
Fowler's syndrome