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About 87% of cases represent a de novo deletion, while about 13% are inherited from a parent with a chromosome translocation. [4] In the cases of familial transmission, there is a 2 to 1 excess of maternal transmission. Of the de novo cases, 80% are paternally derived. [citation needed] A more uncommon cause for WHS is the formation of a ring ...
The chromosomal basis of Wolf-Hirschhorn syndrome (WHS) consists of a deletion of the most terminal portion of the short arm of chromosome 4. The deleted segment of reported individuals represent about one half of the p arm, occurring distal to the bands 4p15.1-p15.2. The proximal boundary of the WHSCR was defined by a 1.9 megabase terminal ...
13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a ...
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 ]
1p36 deletion syndrome is caused by the deletion of the most distal light band of the short arm of chromosome 1. [5] Human chromosome 1. The breakpoints for 1p36 deletion syndrome have been variable and are most commonly found from 1p36.13 to 1p36.33. 40 percent of all breakpoints occur 3 to 5 million base pairs from the telomere. The size of ...
9q34 deletion syndrome is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip ...
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.
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]