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Human conditions due to monosomy: Turner syndrome – Females with Turner syndrome typically have one X chromosome instead of the usual two X chromosomes. Turner syndrome is the only full monosomy that is seen in humans — all other cases of full monosomy are lethal and the individual will not survive development.
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.
Beckwith–Wiedemann syndrome (/ ˈ b ɛ k ˌ w ɪ θ ˈ v iː d ə. m ə n /; abbreviated BWS) is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features.
These changes include an extra copy of part of chromosome 7 in each cell (partial trisomy 7) or a missing segment of the chromosome in each cell (partial monosomy 7). In some cases, several DNA building blocks ( nucleotides ) are deleted or duplicated in part of chromosome 7.
About 10% of individuals had cardiac anomalies, which seemed to be a very uncommon occurrence, with situs abnormalities occurring in few situations. [11] Rarely or sporadically, a number of other abnormalities have been documented, most frequently for deletion 18p due to an imbalanced translocation and concurrent partial trisomy. [1]
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
[16] [24] Psychiatric symptoms, for example, hallucinations, paranoia and depression, have been described in some cases [16] and affect about 5–10% of young adults. [15] Patients are also often extremely stubborn and prone to anger. [20] Psychiatric and behavioural problems are the most common cause of hospitalization. [25]
Angelman syndrome; Other names: Angelman's syndrome [1] [2]: A five-year-old girl with Angelman syndrome. Features shown include telecanthus, bilateral epicanthic folds, small head, wide mouth, and an apparently happy demeanor; hands with tapered fingers, abnormal creases and broad thumbs.