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Case Reports
, 39 (1), 77-81

Duplication 17p11.2 (Potocki-Lupski Syndrome) in a Child With Developmental Delay

  • PMID: 28413209
Case Reports

Duplication 17p11.2 (Potocki-Lupski Syndrome) in a Child With Developmental Delay

S Shuib et al. Malays J Pathol.


Potocki-Lupski syndrome (PTLS), also known as duplication 17p11.2 syndrome, trisomy 17p11.2 or dup(17)(p11.2p11.2) syndrome, is a developmental disorder and a rare contiguous gene syndrome affecting 1 in 20,000 live births. Among the key features of such patients are autism spectrum disorder, learning disabilities, developmental delay, attention-deficit disorder, infantile hypotonia and cardiovascular abnormalities. Previous studies using microarray identified variations in the size and extent of the duplicated region of chromosome 17p11.2. However, there are a few genes which are considered as candidates for PTLS which include RAI1, SREBF1, DRG2, LLGL1, SHMT1 and ZFP179. In this report, we investigated a case of a 3-year-old girl who has developmental delay. Her chromosome analysis showed a normal karyotype (46,XX). Analysis using array CGH (4X44 K, Agilent USA) identified an ~4.2 Mb de novo duplication in chromosome 17p11.2. The result was confirmed by fluorescence in situ hybridization (FISH) using probes in the critical PTLS region. This report demonstrates the importance of microarray and FISH in the diagnosis of PTLS.

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  • A New Patient With Potocki-Lupski Syndrome: A Literature Review
    AD Praticò et al. J Pediatr Genet 7 (1), 29-34. PMID 29441219. - Case Reports
    Speech delay, intellectual disability, and behavioral disturbances are the main clinical manifestations of Potocki-Lupski syndrome. Other features include infantile hypot …

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