total or partial absence or excess of the sex chromosomes produces different karyotypes and phenotypical abnormalities. upon retrospective analysis of the results of 163444 cytogenetic tests that were performed during 28 years (1987-2015) in this center, different types of sex chromosomal aberrations and the clinical phenotypes are delineated in this article. moreover, the clinical course and t...

Triple X syndrome 47XXX is a sex chromosome abnormality characterized by presence of an extra X chromosome. Most of the girls born with triple X chromosomes have no signs or symptoms at birth. The condition often remains undiagnosed until adulthood when the genetic defect is discovered on investigation for other reasons as in this case of a young girl who presented with primary amenorrhoea. Cli...

BACKGROUND Triple X syndrome (47,XXX or trisomy X) is a relatively frequent cytogenetic condition with a large variety of physical and behavioural phenotypes. METHOD Two adult patients with a triple X karyotype are described. RESULTS Their karyotype was unknown until some years ago. What these patients have in common is that they were diagnosed with a broader autism phenotype, they were sex...

INTRODUCTION Patients with lipodystrophy experience selective or generalized atrophy of adipose tissue. The disruption of lipid metabolism results in an increased risk for development of metabolic syndrome and coronary artery disease. Currently, the mutations responsible for approximately half of lipodystrophy patients are known, but new techniques and examination of different types of genetic ...

BACKGROUND Triple X syndrome is a sex chromosomal aneuploidy condition characterized by tall stature, microcephaly, hypertelorism, congenital abnormalities, and motor and language delays. It is mainly derived from maternal nondisjunctional errors during meiosis. To highlight the clinical features and diagnosis of triple X syndrome, we present a rare phenotype of the syndrome. CASE PRESENTATIO...

239 sulted in 2 normal living children. The 3rd pregnancy resulted in a spontaneous abortion. Her last pregnancy at the age of 29 years resulted in a child with Down's syndrome. The child had 47 chromosomes with trisomy 21. The patient also has 47 chromosomes with a triple X karyotype. About 200% of her buccal cells contain 2 chromatin bodies. The patient's husband is physically and mentally no...