title: [Turner syndrome and monosomy 1p36 deletion syndrome misdiagnosed as thyropenia: report of one case].
abstract: A 21-year-old woman with a short stature presented with primary amenorrhoea and a 45X karyotype, and comparative genomic hybridization revealed 1p36 deletion and abnormal genes in multiple chromosomes to support the diagnosis of Turner syndrome and monosomy 1p36 deletion syndrome. The main clinical features of this condition include microsomia, poor sexual development, menoschesis, gigantorectum, absence of internal genitalia, sometimes with thyropenia and low intelligence. This disease can be easily diagnosed for its heterogeneous clinical manifestations.
authors.affiliation: Haikou Hospital Affiliated to Xiangya Medical School, Zhongnan University, Haikou 570208, China. E-mail: WZM7890@163.com.
authors.forename: Xubiao
authors.initials: X
authors.lastname: Meng
authors.forename: Zhiming
authors.initials: Z
authors.lastname: Li
authors.forename: Tingting
authors.initials: T
authors.lastname: Liu
authors.forename: Zhiming
authors.initials: Z
authors.lastname: Wen
mesh_terms: D000015:Abnormalities, Multiple; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis*; D002878:Chromosomes, Human, Pair 1; D055028:Comparative Genomic Hybridization; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D059785:Karyotype; D014424:Turner Syndrome / Q000175:diagnosis*; D055815:Young Adult