Marker chromosomes are very rare in Klinefelter patients and phenotypic findings are related to the affected chromosomal region. The phenotypic effects of small supernumerary marker chromosomes (sSMC) range from multiple malformations/mental retardation to no effect (ie a normal phenotype). This wide spectrum of phenotypes is due to the origin, structure and gene content of the marker chromosom...

Growth and development in humans begin at conception, which shows progress interdependence. Normal children show the characteristic of growth development. In with disorder, chromosomal abnormality may be found. This study aimed to determine patients disorder. The samples were taken from karyotype results Medical Genetics Laboratory, Faculty Medicine, Universitas Wijaya Kusuma Surabaya, 2010-202...

It is currently unclear whether an adolescent with 47,XXY Klinefelter syndrome will be better off having testicular sperm extraction (TESE) performed in an effort to 'preserve fertility' for the future or, alternatively, should be advised to simply wait until adulthood when he and his partner are ready to begin a family. This report will provide data suggesting that there is no obvious 'preserv...

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 ...

Hypogonadism or Testosterone Deficiency (TD) in adult men as defined by low levels of serum testosterone accompanied by characteristic symptoms and/or signs as detailed further on can be found in long-recognized clinical entities such as Klinefelter syndrome, Kallmann syndrome, pituitary or testicular disorders, as well as in men with idiopathic, metabolic or iatrogenic conditions that result i...

Germ cell tumors are the most common malignancy in men aged 15-35 years old, with a small percentage presenting in an extragonadal location. These tumors are seldom identified in the gastrointestinal tract. There is increased risk of extragonadal germ cell tumors (EGCT) in men with Klinefelter syndrome (KS). We report a rare case of a 37-year-old male with KS and EGCT discovered in the duodenum...

1 Matsuse T, Oka T, Kida K, et al. Importance of diffuse aspiration bronchiolitis caused by chronic occult aspiration in the elderly. Chest 1996; 110:1289-93 2 Igarashi T, Hirawawa M, Shibuya Y, et al. A case of diffuse aspiration bronchiolitis secondary to aschalasia of esophagus. Nippon Kyobu Shikkan Gakkai Zasshi 1991; 29:1059-63 3 Hoshi A, Sugama Y, Kitamura S, et al. A case of Klinefelter ...

This study aimed to characterize cerebral perfusion in men with Klinefelter's syndrome, known to present specific deficits in language, using (99m)Tc- hexamethylpropylene-amine-oxime scintigraphy and Talairach normalization. While a perfusion asymmetry toward the left hemisphere was found in controls, perfusion was mostly symmetrical in Klinefelter patients in the upper temporal and lower parie...

BACKGROUND An increasing body of evidence suggests that the apparent social impairments observed in schizophrenia may arise from deficits in social cognitive processing capacities. The ability to process basic social cues, such as gaze direction and biological motion, effortlessly and implicitly is thought to be a prerequisite for establishing successful social interactions and for construing a...