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Monosomy 9p (also known as Alfi's Syndrome or simply 9P-) is a rare chromosomal disorder in which some DNA is missing or has been deleted on the short arm region, "p", of one copy of chromosome 9 (9p22.2-p23). [1] [2] This deletion either happens de novo or as a result of a parent having the chromosome abnormality. [3]
Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair, which affects chromosome 14. Fetuses with monosomy 14 are not viable. [1] Only mosaic cases exist and these usually present with severe symptoms such as intellectual disability, ocular colobomata, microcephaly, and seizures.
Tetrasomy 9p. Tetrasomy 9p (also known tetrasomy 9p syndrome) is a rare chromosomal disorder characterized by the presence of two extra copies of the short arm of chromosome 9 (called the p arm), in addition to the usual two. [1] Symptoms of tetrasomy 9p vary widely among affected individuals but typically include varying degrees of delayed ...
the distal deletion, known as the 1q21.1 deletion syndrome; the distal duplication, known as the 1q21.1 duplication syndrome; The CNVs lead to a very variable phenotype and the manifestations in individuals are quite variable. Some people who have a CNV can function in a normal way, while others have symptoms of mental retardation and various ...
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] About 6% of miscarriages have trisomy 16. [3] Those mostly occur between 8 and 15 weeks ...
Genetics. Wolf–Hirschhorn syndrome is a microdeletion syndrome caused by a deletion within HSA band 4p16.3 of the short arm of chromosome 4, particularly in the region of WHSCR1 and WHSCR2. [7] The phenotypic characteristics of WHS are thought to be caused by the haploinsufficiency of the genes Wolf-Hirschhorn syndrome candidate 1 (WHSC1 ...
Vomiting. Weight loss. High fever. Pneumonia in severe cases. In cases where the bacterium has caused a systemic infection, you may observe more critical and life-threatening symptoms, including ...
Trisomy X, also known as triple X syndrome and characterized by the karyotype [note 1] 47,XXX, is a chromosome disorder in which a female has an extra copy of the X chromosome. It is relatively common and occurs in 1 in 1,000 females, but is rarely diagnosed; fewer than 10% of those with the condition know they have it.