A patient with 45,X-46,XXq--46,XXq-dic 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...

Three patients with a 45,X/46,X,psu dic(Xp) karyotype.

Few cases of isochromosomes for the short arm of the X have been reported and all are dicentric with variable portions of the long arms interposed between the two centromeres. This paper reports three cases of complete short arm duplication of one X chromosome in unrelated female patients. All patients also have a 45,X cell line and present with some characteristic features of Turner syndrome. ...

Developmental abnormalities in a patient with karyotype 46,XX,bq+.

A Rare Case of Klinefelter Syndrome Patient with Quintuple Mosaic Karyotype, Diagnosed by GTG-Banding and FISH

Complex Karyotype with Novel Translocation in Pure Erythroid Leukemia Patient

Pure erythroid leukemia (PEL) is rare hematopoietic neoplasm characterized by uncontrolled proliferation of immature erythroid precursors - mainly abnormal proery-throblasts - comprising at least 80% of bone marrow cells. In this paper, I present a case of 48 years old patient, who presented with pancytopenia and circulating erythroblast in peripheral blood after long history of alcohol abuse. ...