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Monosomy 9p (also known as Alfi's Syndrome, 9p Minus 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]
18p-, also known as monosomy 18p, deletion 18p syndrome, del(18p) syndrome, partial monosomy 18p, or de Grouchy syndrome 1, is a genetic condition caused by a deletion of all or part of the short arm (the p arm) of chromosome 18. It occurs in about 1 of every 50,000 births.
1p36 deletion syndrome is the most common terminal deletion syndrome in humans. [6] It occurs in between 1 in 5000 and 1 in 10000 live births. [4] And only 100 cases have been reported between 1981 and 2015. [disputed – discuss] [11]
The clinical similarities between the individuals resulted in the classification of a new genetic syndrome. [ 1 ] [ 2 ] [ 3 ] The shared clinical features include moderate to severe intellectual disability and similar facial features including telecanthus , drooping eyelids , downslanting, short palpebral fissures , a prominent nasal bridge ...
13q deletion syndrome can only be definitively diagnosed by genetic analysis, which can be done prenatally or after birth. [3] Family and medical history is important when diagnosing a child with 13q deletion syndrome. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. [2]
16p11.2 deletion syndrome is a rare genetic condition caused by microdeletion on the short arm of chromosome 16. Most affected individuals experience global developmental delay and intellectual disability, as well as childhood-onset obesity. [1] 16p11.2 deletion is estimated to account for approximately 1% of autism spectrum disorder cases. [3] [4]
Chromosome 5q deletion syndrome is an acquired, hematological disorder characterized by loss of part of the long arm (q arm, band 5q33.1) of human chromosome 5 in bone marrow myelocyte cells. This chromosome abnormality is most commonly associated with the myelodysplastic syndrome .
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. Cri du chat syndrome – (French for "cry of the cat" after the persons' malformed larynx) a partial monosomy caused by a deletion of the end of the short arm of chromosome 5