Autosomal trisomy as a sole cytogenetic change has been described in several hematologic malignancy cases, but the number of reports on the association between specific morphologies and individual structural cytogenetic abnormalities are few [1]. Trisomy 8 is the most common abnormality in myeloproliferative neoplasms (MPN), MDS, MDS/MPN and AML, and trisomy 4, 9, 11, 13, and 21 have been repor...

Fluorescence in situ hybridization with a chromosome 12-specific a-centromeric probe and a 13q14 yeast artificial chromosome probe was performed on interphase cells from 100 patients with B-cell chronic lymphocytic leukemia. Thirty-one patients exhibited a 13q14 deletion. No correlation was found between 13q14 deletions and clinical stage, sex, or morphology. Sixteen patients had trisomy 12, in...

OBJECTIVE To investigate the maternal serum concentration of human placental growth hormone (hPGH) in trisomy 21 and trisomy 18 pregnancies at 11 to 13 weeks of gestation and to examine the possible association between fetal nuchal translucency (NT) thickness and maternal serum free beta-human chorionic gonadotrophin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). METHODS The m...

The identification of DNA polymorphisms makes it possible to classify trisomy 21 according to the parental origin and stage (meiosis I [MI], meiosis II [MII], or postzygotic mitotic) of the chromosomal error. Studying the effect of parental age on these subgroups could shed light on parental exposures and their timing. From 1989 through 1993, 170 infants with trisomy 21 and 267 randomly selecte...

A case of trisomy for the short arm of chromosome 9 in a 13-year-old boy is described. Particular emphasis is placed upon a number of abnormal dental findings, which include enamel hypoplasia, hypodontia, and severe dental crowding. The difficulties of providing comprehensive dental treatment in cases such as these is discussed.

In the search for models for studying the pathogenesis of Down syndrome in man, mouse trisomy 16 has been identified as an animal model for human trisomy 21 (1, 2). This identification is based on comparative genetic mapping studies demonstrating that three genes on the distal part of the long arm of human chromosome 21 are syntenic in the mouse and are located on mouse chromosome 16 (3-6). The...

Introduction: Prenatal diagnostic is a method which used to prove the presence of chromosome changes, large number metabolic disorders and other morphological fetus abnormalities. genetic testing mostly refers molecular cytogenetic methods during pregnancy diagnose fetal conditions. Aim: To investigate existence incidence cytogenetics abnormalities in fetuses. Material Methods: The retrospectiv...

In childhood ALL, an extra chromosome 5 is commonly encountered in cases with hyperdiploidy >50 chromosomes. The presence of trisomy 5 in high hyperdiploid childhood ALL is associated with a less favourable clinical outcome. Trisomy 5 as a sole abnormality in ALL is exceedingly rare and described in only 3 cases, including 2 adult ALL and 1 paediatrics case occurring in a 12-year old girl. Tris...

PURPOSE To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. METHODS A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Tea...