X marks the spot : a case report on Turner Syndrome
Publication Date
2011
Document Type
Research
Abstract
Mental retardation is not common in Turner Syndrome. Most have an average IQ of 90 with above average skills. In one study, 14 patients were identified with mosaicism for a marker chromosome presenting with abnormal facial features and mental retardation like out patient. The marker chromosome in these patients with MR lacked inactivation which was documented through fluorescent in-situ hybridization (FISH) or polymerase chain reaction (PCR). It is important to know the origin of the marker chromosome since it may originate from the Y chromosome which may predispose to developing gonadoblastoma and possible an invasive dysgerminoma needing prophylactic gonadectomy. Further tests are needed to confirm the origin of the marker chromosome to guide us with therapy and prognosis of our patient. This is a case of a 2 year 11 months old female with dysmorphic features and global developmental delay not a common in TS. Karyotyping showed TS mosaic type for a marker chromosome. Marker chromosomes are postulated to alter the phenotype of TS patients making MR prominent in a handful of cases. Further work up is needed to evaluate this and to prove this hypothesis.
APA Citation
Capili, Liwliwa, "X marks the spot : a case report on Turner Syndrome" (2011). Resident Research. 356.
https://greenprints.dlshsi.edu.ph/resident-research/356