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Duchenne muscular dystrophy. P – Point mutation, or any insertion/deletion entirely inside one gene. D – Deletion of a gene or genes. Dup - Duplication of a gene or genes. C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length.
Chromosome abnormality. A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [1][2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural ...
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
Down syndrome is the most common chromosomal abnormality in humans. [9] Globally, as of 2010, Down syndrome occurs in about 1 per 1,000 births [1] and results in about 17,000 deaths. [142] More children are born with Down syndrome in countries where abortion is not allowed and in countries where pregnancy more commonly occurs at a later age. [1]
Genetic disorders may be grouped into single-gene defects, multiple-gene disorders, or chromosomal defects. Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the two copies (a dominant disorder). Some conditions result from deletions or abnormalities of a few genes ...
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome. [2][6][7] Most people have two sex ...
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a phenotypic male at birth has an extra X chromosome. [ 10 ] These complications commonly include infertility and small, poorly functioning testicles (if present). These symptoms are often noticed only at puberty, although this is one of the most common chromosomal ...
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion. [1]