Duplication 17p11.2 (Potocki-Lupski syndrome) in a child with developmental delay

Salwati Shuib, Nenny Noorina Saaid, Zubaidah Zakaria, Juriza Ismail, Zarina Abdul Latiff

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)77-81
Number of pages5
JournalMalaysian Journal of Pathology
Volume39
Issue number1
Publication statusPublished - 1 Apr 2017

Fingerprint

Fluorescence In Situ Hybridization
Chromosomes
Chromosome Duplication
Cardiovascular Abnormalities
Muscle Hypotonia
Learning Disorders
Trisomy
Live Birth
Attention Deficit Disorder with Hyperactivity
Karyotype
Genes
Potocki-Lupski syndrome
Autism Spectrum Disorder

Keywords

  • Developmental delay
  • Duplication 17p11.2
  • Fluorescence in situ hybridization
  • Microarray
  • Potocki-Lupski syndrome

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology
  • Cell Biology

Cite this

Duplication 17p11.2 (Potocki-Lupski syndrome) in a child with developmental delay. / Shuib, Salwati; Saaid, Nenny Noorina; Zakaria, Zubaidah; Ismail, Juriza; Abdul Latiff, Zarina.

In: Malaysian Journal of Pathology, Vol. 39, No. 1, 01.04.2017, p. 77-81.

Research output: Contribution to journalArticle

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