Turner's syndrome and 46,X,i(Yq) karyotype

Hypoplastic left heart syndrome and 45X karyotype.

A review of 63 patients with 45X karyotype (Turner's syndrome) admitted to a hospital from 1972 to 1985 showed that 20 (32%) had one or more major cardiac malformations (mostly coarctation and aortic stenosis). Four (20%) died in the neonatal. One infant had mitral stenosis and severe aortic stenosis and died at the age of 35 days. The three (15%) other patients who died had a typical hypoplast...

Down's syndrome with an unusual karyotype.

Clinical phenotype and karyotype finding of Turner syndrome in Jakarta

Turner syndrome (TS) is the most common sex chromosome abnormality of female, occurs in one in 2500 live-born females. TS combines’ characteristic physical features with complete or partial absence of the X chromosomes, frequently accompanied by cell mosaicsm. The aims of this study is to describe the clinical phenotype and karyotype of patient with Turner Syndrome in Jakarta, Indonesia. Data w...

Turner syndrome isochromosome karyotype correlates with decreased dental crown width.

The aim of this project was to study possible influences of Turner syndrome (TS) karyotype and the number of X chromosomes with intact short arm (p-arm) on dental crown width. Primary and permanent mesio-distal crown width was measured on plaster casts from 112 TS females. The influence on crown width of four karyotypes: 1. monosomy (45,X), 2. mosaic (45,X/46,XX), 3. isochromosome, and 4. other...

45, XO karyotype in women with atypical Turner’s syndrome presentation

Turner’s syndrome (TS) is one of the important chromosomal disorders with loss of one sex chromosome in females. The characteristic features include short stature, webbed neck and poorly developed secondary sexual characters. Here we report four cases of TS (one asymptomatic and three symptomatic) who were admitted at Coimbatore Medical College Hospital with general health complaints. Further d...