Who first described 1p36 deletion syndrome? - what chromosome is usher syndrome found on
Syndrome deletion of chromosome 1p36 May also be known as monosomy 1p36.
The first part describes the genetic condition, and in what year?
If the disease have a common name, such as Down syndrome, Marfan's syndrome, Usher syndrome?
Sunday, January 24, 2010
What Chromosome Is Usher Syndrome Found On Who First Described 1p36 Deletion Syndrome?
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Caused by a deletion of the terminal block distal short arm of chromosome 1, monosomy 1p36 deletion is the most commonly observed terminal chromosome, occurs in approximately 1 of 5000 births (Shaffer and Lupski 2000; Heilstedt et al. 2003b). Shaffer's laboratory was the first in 13 subjects (Shapira et al. 1997), the characteristics of the craniofacial contiguous gene deletion syndrome (DSCG) - so called because it is the removal of several adjacent genes in the same arm of chromosome - including the closure late large anterior fontanelle (membranous interval at the junction of the bones of the skull at the top of the skull), brachycephaly (head disproportionately heavy), deep-set eyes, a flat nose bridge, asymmetric ears and a pointed chin. Monosomy 1p36 is with mental retardation, developmental delay, deafness, seizures, impaired growth, heart defects (Shapira et al. 1997; Slavotinek et al. 1999; Heilstedt et al. 2003a). More than 90 people have been with 1p36 rearrangements were included in our study, published recently, 61 of whiched Heilstedt et al (. 2003a). The sizes of the deletion in patients vary considerably (Wu et al. 1999; Heilstedt et al. 2003a), but there is some consistency in the generation of deletions, with over 60% of maternal origin (Wu et al. 1999; Heilstedt et al. 2003a). Candidate genes have been proposed for certain individual characteristics of monosomy 1p36, including seizures (Heilstedt et al. 2001) and palate facial anomalies (Colmenares et al. 2002).
ReplyDeleteShaffer lab recently identified possible mechanisms for the production and / or stabilizing terminal deletions of 1p (Ballif et al. 2003; Ballif et al. 2004a; Ballif et al. 2004b; GAJĘCKA et al. 2005). In addition, Shaffer laboratory has demonstrated recently, the use of DNA microarrays - a technology for fast resolution and highly sensitive detection of many chromosomal abnormalities - in the detection of 1p36 deletions (Yu et al. 2003).
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Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG (1997) Chromiumosom 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet 61:642-650