We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in...

Down syndrome is one of the most common causes of mental retardation observed in approximately 1/700 live birth. The use of two or more STR markers related to chromosome 21 facilitates the diagnosis of Down syndrome within about six hours from the collection of the samples. This is the first study has been performed in Iranian population to assess the diagnostic value of using small tandem repe...

Cytogenetic evaluation is an important step in the diagnosis of infertile or sterile animals. Moreover, the analysis of sex chromosomes is crucial for a proper classification of disor‐ ders of sex development (DSD). For many years, chromosome studies mainly addressed the livestock species, while recently, increasing interest in such analysis in companion an‐ imals is observed. New molecular and...

a cytogenetic study was performed on 11 tetraploid cotton cultivars (gossypium hirsutum l.)including the oltan cultivar and its crossing progenies. the chromosome pairing and chiasma frequency, aswell as meiotic abnormalities were compared among the genotypes studied. heterozygote translocations withalternate orientation were observed between some of the chromosomes of the a genome and those of...

We used in situ hybridization with a probe for the X chromosome to study interphase cells of bone marrow and peripheral blood specimens from a male patient with acute lymphoblastic leukemia characterized by hyperdiploidy, including trisomy X. In a posttreatment bone marrow specimen, which was interpreted as a regenerating bone marrow morphologically and which demonstrated a normal karyotype cyt...

CONTEXT AND OBJECTIVE Following hematopoietic stem cell transplantation (HSCT), karyotyping is a valuable tool for monitoring engraftment and disease status. Few studies have examined the prognostic significance of karyotypes in patients who underwent HSCT for chronic myeloid leukemia (CML). The objective of this study was to evaluate the significance of pretransplantation cytogenetic status in...

Trisomy 9 is a rare chromosome disorder with high neonatal mortality. It is often seen in mosaic form. Most patients who survive are severely mentally retarded. The main features of this syndrome are "bulbous" nose, microphthalmia, dislocated limbs, and other anomalies of skeletal, cardiac, genitourinary, and central nervous system. Most patients have developmental and cognitive impairment. Pat...

OBJECTIVE To evaluate the hematological, cytogenetic, and molecular responses in Colombian patients with CML chronic myeloid leukemia (CML) treated with imatinib. METHODS Two groups of patients, one with the novo diagnostic and another in state of complete cytogenetic remission were followed for 12 months with quantitative PCR evaluations every three months and with chromosomal analysis every...