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Distal 18q-A 9-year-old girl with phenotypic features of De Grouchy syndrome TYPE I (Monosomy 18p or deletion 18p or 18p-). This image does not show the phenotypic features of distal 18q (de Grouchy Type 2), which are quite distinct from those of Monosomy 18p
Trisomy 16 is a chromosomal abnormality in which there are 3 copies of chromosome 16 rather than two. [1] It is the most common trisomy leading to miscarriage and the second most common chromosomal cause of it, closely following X-chromosome monosomy . [ 2 ]
Klinefelter syndrome (KS), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. [10] These complications commonly include infertility and small, poorly functioning testicles (if present).
Two copies of the gene must be mutated for a person to be affected by an autosomal recessive disorder. An affected person usually has unaffected parents who each carry a single copy of the mutated gene and are referred to as genetic carriers. Each parent with a defective gene normally do not have symptoms. [23]
Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a person'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.
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.
An isochromosome is an unbalanced structural abnormality in which the arms of the chromosome are mirror images of each other. [1] The chromosome consists of two copies of either the long (q) arm or the short (p) arm because isochromosome formation is equivalent to a simultaneous duplication and deletion of genetic material .
[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]