Potocki shaffer syndrome icd 10
Web9 Apr 2024 · Potocki–Shaffer syndrome (PSS) is a rare contiguous gene deletion syndrome marked by haploinsufficiency of genes in chromosomal region 11p11.2p12. Approximately 50 cases of PSS have been reported; however, a syndrome with a PSS-like clinical phenotype caused by 11p11.12p12 duplication has not yet been reported. 11p11.12p12 duplication … Web28 Oct 2024 · Potocki–Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central...
Potocki shaffer syndrome icd 10
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Web1 Mar 2024 · For instance, Potocki-Shaffer syndrome (PSS) is a disorder that affects the development of bones, nerve cells in the brain, and other tissues due to the interstitial deletion of band p11.2 in ... Web17 Feb 2009 · WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region.We present a patient with mental retardation, unilateral cataract, bilateral ptosis, genital abnormalities, seizures …
Web1 Mar 2010 · Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11.2p12 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, … WebWelcome to the Potocki Shaffer Syndrome family website. PSS is a rare genetic condition signified by a deletion of section 11.2 on the short arm of chromosome 11, we refer to it as 11p11.2. This website is created by families for families as formal medical documentation is as rare as the condition itself. Since 2013 we have connected with over ...
WebBrachycephaly (derived from the Ancient Greek βραχύς, 'short' and κεφαλή, 'head') is the shape of a skull shorter than typical for its species.It is perceived as a desirable trait in some domesticated dog and cat breeds, notably the pug and Persian, and can be normal or abnormal in other animal species.In humans, the cephalic disorder is known as flat head … Web23 May 2024 · WAGR 11p13 deletion syndrome is associated with abnormalities including (W) ilms tumor, (A) niridia, (G) enitourinary abnormalities, and growth and mental (R) etardation (WAGR). Potocki–Schaffer syndrome is a contiguous gene syndrome associated with deletions in 11p11.2, principal features of which are multiple exostoses, parietal …
WebDisease definition. A rare partial autosomal monosomy characterized by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and …
Web30 Dec 2024 · Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial … guns hammond laWebThe features of Potocki-Shaffer syndrome result from the loss of several genes on the short arm of chromosome 11. In particular, the deletion of a gene called ALX4 causes enlarged parietal foramina in people with this condition, loss of the EXT2 gene underlies the multiple osteochondromas, and deletion of the PHF21A gene is responsible for the intellectual … guns hand towelsWebPotocki–Shaffer syndrome have been reported to be related to deletions of EXT2 causing multiple exostoses1 and ALX4 causing enlarged parietal foramina.2 We describe a patient gun shaped business card holderWeb27 Jan 2024 · Potocki-Shaffer syndrome (PSS) is a contiguous gene disorder due to the interstitial deletion of band p11.2 of chromosome 11 and is characterized by multiple exostoses, parietal foramina ... gun shaped candlesPotocki–Shaffer syndrome follows an autosomal dominant inheritance pattern, which means a deletion of genetic material from one copy of chromosome 11 is sufficient to cause the disorder. In some cases, an affected person inherits the chromosome with a deleted segment from an affected parent. More commonly, the condition results from a deletion that occurs during the formation of reproductive cells (eggs and sperm) in a parent or in early fetal development. These c… bowtie apartments dartmouthWeb21 Mar 2024 · PSS Gene - Potocki-Shaffer Syndrome Genetic Locus (Updated: Mar 21, 2024) (Updated: Mar 21, 2024 ; GC11U900946 ; GIFtS: 2 ) Search in Gene Follow Gene gun shaped flaskbowtie application