TY  - JOUR
TI  - A rare intrauterine onset growth retardation syndrome 
caused by mosaic 19p13.3 microduplication: evaluation of 
GH/IGF- 1 axis and GH therapy response
AB  - Background. 19p13.3 microduplication syndrome is a newly defined intrauterine onset growth retardation 
syndrome characterized by microcephaly, moderate intellectual disability, speech delay, and mild dysmorphic 
features. The PIAS4 gene located in this region plays a crucial role as a transcriptional co-regulator in various 
cellular pathways including STAT, p53/TP53 and growth hormone (GH) signaling and mutations in this gene 
are thought to be responsible for clinical features. 
Case. We present a 10 year-old girl with intrauterine onset growth retardation, microcephaly, and mild facial 
dysmorphic features. Treatment with GH was started at 4 years and 9 months of age targeting the severe 
short stature (-3.65 standard deviation score, SDS) since she had significant IGF-1 response to exogenous 
GH. Microarray study demonstrated a 19p13.3 microduplication of 4.4 Mb. FISH analyses revealed mosaic 
extra signals (27.5% on blood lymphocytes, and 47% on buccal epithelium) of 19p13.3 region. At the age of 
10, her height was at -2.37 SDS, and she had mild intellectual disability which has been described in 19p13.3 
microduplication syndrome. 
Conclusion. We present here a patient with typical findings of 19p13.3 microduplication syndrome and also 
with a prominent response to GH treatment, which has not been reported previously in this syndrome.
AU  - Karaman, Birsen
AU  - Gunes, Nilay
AU  - Evliyaoğlu, Olcay
AU  - OZER, Emre
AU  - Tüysüz, Beyhan
DO  - 10.24953/turkjped.2021.01.022
PY  - 2021
JO  - Turkish Journal of Pediatrics
VL  - 63
IS  - 1
SN  - 0041-4301
SP  - 174
EP  - 180
DB  - TRDizin
UR  - http://search/yayin/detay/508815
ER  -