INTRODUCTION Williams syndrome (WS) is a rare but well recognised neurodevelopmental disease affecting the connective tissue and the central nervous system. Many patients are identified through the presence of dysmorphic features and associated cardiac abnormalities. Klinefelter syndrome (KS) is associated with gynaecomastia, small testes, azoospermia and elevated gonadotropin levels. They are ...

Klinefelter syndrome (KS), a 47,XXY chromosomal abnormality, has been shown to be associated with a number of malignancies, but has not been linked to acute leukemias to date. We present a case of a 54-year-old male diagnosed with acute myeloid leukemia (AML) with monocytic differentiation, whose cytogenetic and subsequent FISH analyses revealed a constitutional 47,XXY karyotype. We also review...

Male fertility preservation receives growing attention in the field of reproductive medicine. The first clinical programs were established to preserve reproductive potential in men needing gonadotoxic treatment. Sperm cryopreservation is now a standard procedure. Since a few years, several centres offer testicular tissue cryopreservation to prepubertal boys. This method is still experimental an...

A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve ...

Klinefelter syndrome (KS) is the most common chromosomal aneuploidy in males. It is very difficult to diagnose this disorder in childhood due to absence of significant manifestations before puberty. These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency. The boy's height was below the 3rd centile with significant delay in bon...

A 36-year-old man presented with exertional dyspnoea and chest pain. He also had sexual dysfunction with poorly developed secondary sex characteristics. Echocardiography and thorough cardiac evaluation revealed obstructive hypertrophic cardiomyopathy. Hormonal profile suggested primary hypogonadism and cytogenetics report suggested a karyotype, 47, XXY, in all counted cells, consistent with the...

We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular dystrophy. This combination...

Having two X chromosomes and one Y chromosome (or a genotype of XXY, instead of XY) does indeed have a name ? and that name is Klinefelter syndrome! Bravo for wanting to find out more about this condition that occurs more often you might suspect. Klinefelter Syndrome ? or KS for short ? affects one out of every 500 to 1,000 baby boys of all races and ethnicities, although many people might not ...

Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall st...

Having two X chromosomes and one Y chromosome (or a genotype of XXY, instead of XY) does indeed have a name ? and that name is Klinefelter syndrome! Bravo for wanting to find out more about this condition that occurs more often you might suspect. Klinefelter Syndrome ? or KS for short ? affects one out of every 500 to 1,000 baby boys of all races and ethnicities, although many people might not ...