A case of Werner syndrome with chromosomal abnormality

Down-Turner Syndrome: A Case with Double Monoclonal Chromosomal Abnormality

Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case R...

Chromosomal Abnormality in Men with Impaired Spermatogenesis

Chromosomal study of Bloom syndrome: Report of a case

Bloom syndrome is a rare autosomal recessive genetic disorder, which is characterized by telangiectasia and erythema in the butterfly area of the face, dwarfism and photosensitivity. The case presented herein is a 22-year-old man who referred with facial erythema and telangiectasia (Resembling lupus erythematosus). The skin lesions were exacerbating during summer. Other clinical findings were p...

Herlyn Werner Wunderlich Syndrome with Hematocolpos: An Unusual Case Report of Full Diagnostic Approach and Treatment

Herlyn-Werner-Wunderlich (HWW) syndrome is an uncommon combined müllerian duct anomalies (MDAs) and mesonephric duct malformation of female urogenital tract characterized by uterus didelphys and obstructed hemi-vagina and ipsilateral renal agenesis (OHVIRA) syndrome. We present a rare and unusual case of this syndrome in a 19 year-old female who suffered from hypomenorrhoea and abdominal pain. ...

A marrow chromosomal abnormality preceding clinical leukemia in Down's syndrome.

By ALAN P. DEMAYO, KOSMAS A. KIosSoGLoU, MARION E. ERLANDSON, REBECCA F. NOTTERMAN AND JAMES GERMAN DETECTION OF THE LEUKEMIC PROCESS before the usual clinical and hematologic features have appeared could be of value not only from the therapeutic standpoint but also in the understanding of the pathogenesis and evolution of the disease. In this respect, a better understanding of Down’s syndrome ...