Cobalamin is an essential molecule for humans; it is exceptionally important for various
body functions, including deoxyribonucleic acid synthesis and cellular energy production …

Background Studies in mothers of Down syndrome individuals (MDS) point to a role for
polymorphisms in folate metabolic genes in increasing chromosome damage and maternal …

Aneuploidy is a category of chromosomal abnormalities involving a numerical abnormality of
the chromosomes. The most common type seen in live-born babies is trisomy. Double …

ABSTRACT A neonate with a double aneuploidy associated with congenital heart defect
(CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) …

Small supernumerary marker chromosomes (sSMCs) are centric chromosome fragments
additionally present in an otherwise normal human chromosome set that cannot be …

Aneuploidy is the second most important category of chromosome mutations relating to
abnormal chromosome number. It generally arises by nondisjunction at either the first or …

Background Down syndrome (DS), also called as trisomy 21, is one of the most leading
cause of intellectual disability. DS is associated with a number of phenotypes including …

Objective: The Down-Klinefelter syndrome (48, XXY,+ 21) is a rare chromosome
abnormality. The aim is to describe the clinical features and diagnosis of rare event. Method …

Background: Down syndrome is the most common and extensively studied disorder arising
out of human chromosomal aberration. Several aneuploidies are associated with Down …

Double aneuploidy is the co-occurrence of aneuploidy of two different chromosomes within
the same individual. Genomic imbalance associated with two aneuploidies in humans is …