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- W3134529307 abstract "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." @default.
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- W3134529307 date "2021-01-01" @default.
- W3134529307 modified "2023-09-26" @default.
- W3134529307 title "A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of gh/igf- 1 axis and gh therapy response" @default.
- W3134529307 doi "https://doi.org/10.24953/turkjped.2021.01.022" @default.
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