A new recurring chromosome abnormality was identified in 8 of 621 consecutive successfully karyotyped adults with de novo acute leukemia. These eight patients had trisomy 13 as the sole cytogenetic abnormality. On central morphologic review, five cases were classified as subtypes of acute myeloid leukemia, one as acute mixed lymphoid and myeloid leukemia, one as acute lymphoid leukemia, and one...

A 32 week, small for dates baby with aplasia cutis congenita had an unbalanced translocation, being monosomic for distal 12q and trisomic for distal 1q. As far as is known, the association between extensive skin defects and a chromosomal abnormality has not been reported before. Keratin genes have been located in a different area of 12q, but this case may indicate other candidate areas to explo...

Background and Objectives: studying chromosomal changes for anemia patients of children age (3month-12years ) in the city kut diagnosing those abnormalities resulting from having Methods: The chromosomes Patients to were analyzed studied using cytogenetic analysis detect aberrations caused by after collecting blood samples Al-Karama Teaching Hospital as well clinics Kut.Results: Chromosomal all...

The aim of this study was to evaluate the relationship between fetal karyotype and parental chromosomal abnormalities, and to provide a basis for clinical diagnosis and therapy in Northeast China. A total of 144 spontaneously aborted fetuses were analyzed by FISH to test for chromosome number and to recall couples for peripheral blood karyotype analysis. The rate of abnormal chorionic villus ch...

the myelodysplastic syndrome (mds) is a highly heterogenous disorder and karyotype analysis is helpful for diagnostic and prognostic estimation. deletion in long arm chromosome 6 (6q del) as a sole abnormality is a rare event in mds. this is the first case report of del (6q) as the only observed diagnostic change in iran. we also reviewed the literature of this cytogenetic lesion.

Partial deletion of the long arm of chromosome 7 is a common abnormality in the bone marrow cells of patients with myelodysplastic syndrome (MDS) or acute nonlymphocytic leukemia (ANLL). This study was undertaken to characterize the chromosome breakpoints in molecular terms and to determine if hemizygosity or submicroscopic deletions occur in patients without any cytogenetically detectable abno...

down syndrome (ds) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. it is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. although the syndrome had been described thousands of years before, it was named after john langdon down who described ...

in this study, chromosome analyses were performed on 70 infertile azoospermic and oligospermic (<20 million/ml) men, and also cultures of peripheral blood lymphocytes by high resolution banding method were analysed as well. it is revealed 8 (11.43 percent) men with chromosomal abnormality. there were 31.4 percent patients with azoospermia and 68.6 percent with oligospermia from several thousand...

Turner syndrome (TS) is the most common cause of short stature and delayed puberty in females. Approximately half patients have classic form with a genotype 45,XO, one-fourth different mosaic forms, remaining structural abnormalities on X chromosome. Among abnormalities, isochromosome Xq. Females variants TS can present menarche, amenorrhea, infertility rather than manifestations TS. This study...

I N 1959 LEJEUNE, GAUTHIER AND TURPIN’ reported the finding of 47 chromosomes, one more than the normal number, in the cells of children with mongolian idiocy ( Down’s syndrome ) . The extra chromosome, one of the small acrocentrics-prohablv number 21-has since been universally verified. Nowell and Hungerford,2 in 1960, showed that chronic granulocytic leukemia is also associated with an abnorm...