Duplication 17p11.2 (Potocki-Lupski Syndrome) in a child with developmental delay
- Author:
Salwati Shuib
;
Nenny Noorina Saaid
- Publication Type:Case Reports
- Keywords:
Potocki-Lupski syndrome, duplication 17p11.2, microarray, developmental delay, fluorescence in situ hybridization
- From:The Malaysian Journal of Pathology
2017;39(1):77-81
- CountryMalaysia
- Language:English
-
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.
- Full text:P020170515587233682091.pdf
