Four cases of acute infantile leukemia with translocation (4;11) (q21;q23) are reported. Although leukemia with this chromosomal abnormality has been classified as L2 acute lymphoblastic leukemia by the FAB classification, two of our cases appeared to be of myelomonocyte origin as demonstrated by cytochemical, immunologic, and electron microscopic studies and differentiation induction by 12-tet...

Partial monosomy 10p is a rare chromosomal disorder characterised by frontal bossing, micrognathia, congenital heart defects, vesicoureteral abnormalities, and developmental delay. This is the first report to describe seizures not associated with hypocalcaemia, as well as cortical atrophy and decreased white matter volume on magnetic resonance imaging, in a patient with documented partial monos...

Results: A structural chromosomal abnormality was observed in 95 cases. The most frequently observed structural abnormalities were balanced translocations with a frequency of 53.7% (51 cases) followed by unbalanced translocations (16.8%), inversions (11.6%), supernumerary marker chromosomes (8.4%), duplications (4.2%), deletions and ring chromosomes (2.1%) and complex translocation (1.1%). rare...

A case of agenesis of the corpus callosum with a chromosomal abnormality is reported. The patient was a male infant, born to phenotypically normal, non-consanguineous parents. He had an abnormal phenotype, mental retardation, and chromosome mosaicism 46,XY/47,XY,+r. Chromosomal analysis of both parents showed a normal karotype. The origin of the small ring chromosome could not be determined and...

Natural genetic material may shed light on gene expression mechanisms and aid in the detection of disorders. Single Nucleotide Polymorphism (SNP), small insertions deletions (indels), major chromosomal anomalies are all abnormality-related As a result, several methods have been applied to analyze DNA sequences, which constitutes one most critical aspects biological research. Thus, numerous math...

Chromosomal translocation is the most common form of chromosomal abnormality and is often associated with congenital genetic disorders, infertility, and cancers. The lack of cellular and animal models for chromosomal translocations, however, has hampered our ability to understand the underlying disease mechanisms and to develop new therapies. Here, we show that site-specific chromosomal translo...

Recurrent spontaneous abortions (RSAs) occur in approximately 15 to 20% of all clinically recognizable pregnancies. Structural chromosome abnormalities result in increased risk of pregnancy loss. Parental chromosomal abnormalities are an important genetic cause of RSAs. Some cytogenetic investigations have been performed in various countries and regions to determine the pattern of chromosomal a...

With the advances in neurogenetics association of epilepsy and intellectual disability with chromosomal abnormalities are being increasingly recognized. While onset of seizures with mental retardation at an early age indicate chromosomal abnormality, combination of characteristics facial dysmorphism and congenital abnormalities gives a clue of a particular syndrome. In addition MRI findings may...

The Klinefelter syndrome is most common chromosomal cause of male infertility. However, the many cases of the syndrome remain undiagnosed due to variations in clinical presentation. A patient attended to surgical OPD with complaints of loss of secondary sexual characteristics and infertility. Physical examination revealed tall stature, thin built, small testes size, and absence of beard and pub...

In the present study, a total of 150 individuals in different age group presenting clinical profile like genetically uncertain syndrome, multiple congenital anomalies, short stature, facial dysmorphism, abnormal behaviour, unclassified mental retardation and Down syndrome were referred to the Human Genetic Research cum Counselling centre, Jammu to rule out chromosomal abnormality. Chromosome st...