1. T URNER ’ S S YNDROME, M ONOSOMY X By: Nikita Patel Developmental Biology

2. C HROMOSOMAL ISSUE / ETIOLOGY /C LINICAL MANIFESTATIONS Genetic issue in girls 1 Individual has 1 copy of X chromosome due to failure of the egg or sperm to pass on their X chromosome 50% of females born with Turner’s Syndrome have puffy feet and hands 1,2 30% have wide necks, low hair line, and lymphedema 2 Common problems: short height, broad chest, small nevi on the skin, absent or missing ovaries resulting in problems in puberty and fertility, and heart, kidney, and thyroid issues 2,3 Learning and behavioral problems are rare 2

3. INCIDENCE / TREATMENT 1 in 2,000-2,500 females have Turner Syndrome 2 1/3 to 1/2 have heart defects 2 1/2 of girls have monosomy X have one copy of X chromosome 1,2,3 Fertility issues are usually untreatable 2,3 Turner Syndrome can be detected early by the amniotic fluid before birth 2 No cure but hormone treatments can help development 1,2 Surgeries can help with heart defects and kidney problems 1 Medication is used to treat thyroid problems and high blood pressure 1

4. R EFERENCES 1 Clark, H. Turner syndrome [Internet]. University of Rochester Medical Center; 2015 [cited 2015 Sep 14]. Available from http://ghr.nlm.nih.gov/condition/turner-syndrome http://ghr.nlm.nih.gov/condition/turner-syndrome 2 Genetic Home Reference (US). Turner syndrome [Internet]. U.S. National Library of Medicine; 2012 Jan [cited 2015 Sep 14]. Available from http://ghr.nlm.nih.gov/condition/turner-syndrome http://ghr.nlm.nih.gov/condition/turner-syndrome 3 Victoria State Government. Turner’s Syndrome [Internet]. Victorian Turner’s Syndrome Association Inc.; 2014 Sep [cited 2015 Sep 14]. Available from http://www.betterhealth.vic.gov.au/bhcv2/bhcarti cles.nsf/pages/Turner's_syndrome http://www.betterhealth.vic.gov.au/bhcv2/bhcarti cles.nsf/pages/Turner's_syndrome