A recurring translocation (X;20)(q13;q13) was found in four women ranging in age from 57 to 77 years. They had myelodysplasia, myelodysplasia with thrombocytopenia and pancytopenia, transforming to myelofibrosis, and myelodysplasia with sideroblastic anemia, respectively. The t(X;20) was the sole abnormality in three cases; one case also had a der(1;7)(q10;p10). Added to three previously report...

Cytogenetic analysis of short-term cultures was carried out on 109 lipomas from 92 patients. Clonal chromosomal abnormalities were present in 50% of the tumors analyzed. Based on the results, three main cytogenetic groups were identified and included: (a) tumors with normal karyotypes, (b) tumors with abnormalities involving region q13-15 on chromosome 12, and (c) tumors with other clonal aberr...

The proximal region of the long arm of chromosome 15q11.2-q13 is associated with various neurodevelopmental disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes, autism, and other developmental abnormalities resulting from deletions and duplications. In addition, this region encompasses imprinted genes that cause PWS or AS, depending on the parent-of-origin. This imprinting allow...

Prader-Willi syndrome (PWS) is characterised by infantile hypotonia, feeding difficulties, hypogonadism, small hands and feet, mental deficiency, obesity in early childhood, a particular facial appearance, and a paternally derived 15q11-q13 deletion (approximately 4 million bp in size) in about 70% of subjects, maternal disomy 15 (both 15s from the mother) in 25% of subjects, or an imprinting m...