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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
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 ...
Haemophilia (British English), or hemophilia (American English) [6] (from Ancient Greek αἷμα (haîma) 'blood' and φιλία (philía) 'love of'), [7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding. [2][3] This results in people bleeding for a longer time after ...
Trisomy 21. Down syndrome (also known by the karyotype 47,XX,+21 for females and 47,XY,+21 for males) [98] is mostly caused by a failure of the 21st chromosome to separate during egg or sperm development, known as nondisjunction. [91] As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 ...
Human genetics. Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which the patient's 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 ...
Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. [2] Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. [2] Mild to moderate intellectual disability is observed in people with WS, with particular challenges with visual ...
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 ...