Abstract
The Journal is the primary organ of Continuing Paediatric Medical Education in Sri Lanka. The journal also has a website. Free full text access is available for all readers.The Sri Lanka Journal of Child Health is now indexed in SciVerse Scopus (Source Record ID 19900193609), Index Medicus for South-East Asia Region (IMSEAR), CABI (Centre for Agriculture and Bioscience International Global Health Database), DOAJ and is available in Google, as well as Google Scholar.The policies of the journal are modelled on the Committee on Publication Ethics (COPE) Guidelines on Principles of Transparency and Best Practice in Scholarly Publishing. Sri Lanka Journal of Child Health is recognised by the International Committee of Medical Journal Editors (ICMJE) as a publication following the ICMJE Recommendations.
Highlights
Turner syndrome (TS) affects 1:2500 live births1
Basic biochemical investigations for short stature and skeletal age were within normal limits
Ring chromosomes are commonly caused by 2 terminal breaks in both chromosome arms with fusion of the broken ends
Summary
Turner syndrome (TS) affects 1:2500 live births1. Turner mosaicism accounts for 30% of girls with TS, and a ring X chromosome is found in around 25% of girls having Turner mosaicism2. Case report A 10-year-old girl was brought to hospital for assessment of short stature. She had developmental delay from early childhood, and her current cognitive functioning was compatible with a 5-year-old. Her height was on the 0.4th percentile, well below the mid-parental height range. Basic biochemical investigations for short stature and skeletal age were within normal limits.
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