A woman in a family in which a G group chromosome (No. 21) with deleted short arms (21p-) is present has passed this chromosome to an intellectually deficient son, a normal son, and a daughter with Down's syndrome. Another daughter is chromosomally and phenotypically normal. As in other reports that focus on a concurrence of Gp- chromosomes and Down's anomaly, the possibility is considered that...

A patient with a partial deletion (q23 leads to qter) of the long arm of chromosome 11 presented with craniosynostosis and syndactyly. These characteristics, which have not been previously reported with 11q--, expand the phenotype of this syndrome and emphasise the need for chromosome analysis with banding techniques in multiple congenital anomaly syndromes, even if the patient could be classif...

INTRODUCTION Becker muscular dystrophy is an X-chromosomal linked anomaly characterized by progressive muscle wear and weakness. This case report shows the orthodontic treatment of a Becker muscular dystrophy patient with unilateral open bite. METHODS To correct patient's malocclusion, general anesthesia and orthognathic surgery were not considered as an option. Conventional orthodontic treat...

I N 1930, Brewster and Cannon’#{176} reported the first example of acute leukemia in a case of mongolism ( Down’s syndrome ) . Between 1947 and 1963, further reports appeared demonstrating the increased incidence of acute leukemia in Down’s syndrome.7”’#{176}”5’48’49’6#{176}’65’M7’#{176}’ In 1958, Stewart et al.TM5 reported that of 677 children dying of leukemia, 18 were associated with Down’s ...

Chromosomal aberrations are a common cause of multiple anomaly syndromes that include growth and developmental delay and dysmorphism. Novel high resolution, whole genome technologies, such as array based comparative genomic hybridisation (array-CGH), improve the detection rate of submicroscopic chromosomal abnormalities allowing re-investigation of cases where conventional cytogenetic technique...

C HROMOSOMAL CHANGES are frequently encountered in a variety of neoplastic conditions and are of great interest to both the pathologist and geneticist.2#{176} Chromosomal studies have had a profound impact on medical genetics. Further investigations are required, however, in order to elucidate the relationship between neoplasia and chromosome patterns. These studies should help to clarify the r...

Myelodysplastic syndrome (MDS) is a clonal disorder of the pluripotent hematopoietic stem cells which is characterized by ineffective and dysplastic hematopoiesis. The pathogenesis of MDS is not well defined and it appears that multiple genetic changes are involved. Several studies have shown that certain chromosomal abnormalities may be influenced by environmental factors, while differences in...