Chromosome analysis was performed on cells obtained from the pleural effusion of a Japanese patient with Burkitt's lymphoma. Two modal chromosomal numbers were found: 45 and 46. Five different karyotypes were present, all having a t (8q-;14q+) translocation. This case illustrates that Burkitt's lymphomas of Japanese are no exception to the frequent association of this chromosomal abnormality wi...

introduction: the prevalence of somatic chromosomal abnormalities in infertile male individuals has been reported to vary in different literatures. the aim of this study was to investigate the frequency of chromosomal aberrations among infertile men referred to the cytogenetic laboratory of iran blood transfusion organization research centre (ibto). materials and methods: chromosomal analysis w...

Objective To examine the incidence and phenotypes of congenital heart disease (CHD) in a large cohort patients with Hirschsprung's (HSCR). Study design Retrospective data review children HSCR between 2003 2020 was conducted at Provincial Key Laboratory for Structural Birth Defects Guangzhou, Guangdong, China. confirmed by pathological diagnosis. CHD defined as gross structural abnormality or in...

Ring chromosome is a rare chromosomal abnormality. We report a case of ring chromosome 13 associated with ambiguous genitalia. Karyotype is the important investigation in the evaluation of a case with ambiguous genitalia and chromosomal analysis should not be limited to only presence of X and Y chromosomes.

Armendares, S., Buentello, L., Salamanca, F., and Cantu-Garza, J. M. (1972). A dicentric Y chromosome without evidence of sex chromosomal mosaicism, 46,XYqdic, in a patient with features of Turner's syndrome. Journal of Medical Genetics, 9, 96-100. Caspersson, T., Lomakka, G., and Zech, L. (1971). The 24 fluorescence patterns of the human metaphase chromosomes-distinguishing characters and vari...

Background: The fetal ductus venosus (DV) is an important vessel that connects the umbilical vein (UV) to proximal end of inferior vena cava (IVC). DV abnormality often leads poor outcome. Thus, careful prenatal ultrasound for diagnosis major clinical significance. Methods: We conducted a retrospective analysis 166 cases diagnosed with by ultrasonography. type abnormality, aberrant connection, ...

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 ...

A nine and 13-year-old boy, previously diagnosed with 18q syndrome and an 11q deletion, respectively were diagnosed with testicular microlithiasis (TM). Both cases demonstrate that TM occurs in patients with various chromosomal abnormalities.

BACKGROUND Recurrent pregnancy loss (RPL) which is generally known as >3 consecutive pregnancy losses before 20 weeks' gestation is seen in 0.5-2% of women. OBJECTIVE To evaluate the association of parental and fetal chromosomal abnormalities with recurrent pregnancy loss in our area and to analyze the frequency of three types of hereditary thrombophilia's; (MTHFR C677T polymorphisms, FV Leid...