Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome,[1] is a rare contiguous gene syndrome that results from the microdeletion of section 11.2 on the short arm of chromosome11 (11p11.2). The syndrome has its name from Dr. Lorraine (Lori) Potocki and Dr. Lisa Shaffer who discovered the deletion on the 11th chromosome and studied the impacts.[2]
Potocki–Shaffer syndrome
Other names
Proximal 11p deletion syndrome, DEFECT11 syndrome
The deletion of this combination of genes results in several distinctive congenital features, occasional defects in the heart, kidneys, and urinary tract. The disorder is associated with an enlarged parietal foramina which can cause openings in the two bones that form the top and sides of the skull. These abnormal openings form extra "soft spots" on the head, in addition to the two that newborns normally have, and unlike the usual newborn soft spots, the enlarged parietal foramina remain open throughout life. Other signs can include multiple mostly noncancerous benignbone tumours called osteochondromas (exostosis), developmental delay, vision disorders and craniofacial abnormalities.[2] It is classified as a rare disease.[2][3]
The signs and symptoms of Potocki–Shaffer syndrome vary widely. In addition to multiple osteochondromas and enlarged parietal foramina, affected individuals often have intellectual disability and delayed development of speech, motor skills (such as sitting and walking), and social skills. Many people with this condition have distinctive facial features, which can include a wide, short skull (brachycephaly); a prominent forehead; a narrow bridge of the nose; a shortened distance between the nose and upper lip (a short philtrum); and a downturned mouth. Less commonly, Potocki–Shaffer syndrome causes vision problems, additional skeletal abnormalities, and defects in the heart, kidneys, and urinary tract.[4]
Geneticsedit
Potocki–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 cases occur in people with no history of the disorder in their family.[citation needed]
^ abcPotocki, L.; Shaffer, L. G. (1996-03-29). "Interstitial deletion of 11(p11.2p12): a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses (EXT2)". American Journal of Medical Genetics. 62 (3): 319–325. doi:10.1002/(SICI)1096-8628(19960329)62:3<319::AID-AJMG22>3.0.CO;2-M. ISSN 0148-7299. PMID 8882796.
^ abReference, Genetics Home. "Potocki-Shaffer syndrome". Genetics Home Reference. Retrieved 2016-09-21.
External linksedit
OMIM entry
Genetic & Rare Diseases Information Center entry 2012-09-19 at the Wayback Machine
Genetics Home Reference entry
January 01, 1970
potocki, shaffer, syndrome, also, known, defect11, syndrome, chromosome, 11p11, deletion, syndrome, rare, contiguous, gene, syndrome, that, results, from, microdeletion, section, short, chromosome, 11p11, syndrome, name, from, lorraine, lori, potocki, lisa, sh. Potocki Shaffer syndrome PSS also known as DEFECT11 syndrome or chromosome 11p11 2 deletion syndrome 1 is a rare contiguous gene syndrome that results from the microdeletion of section 11 2 on the short arm of chromosome 11 11p11 2 The syndrome has its name from Dr Lorraine Lori Potocki and Dr Lisa Shaffer who discovered the deletion on the 11th chromosome and studied the impacts 2 Potocki Shaffer syndromeOther namesProximal 11p deletion syndrome DEFECT11 syndrome The deletion of this combination of genes results in several distinctive congenital features occasional defects in the heart kidneys and urinary tract The disorder is associated with an enlarged parietal foramina which can cause openings in the two bones that form the top and sides of the skull These abnormal openings form extra soft spots on the head in addition to the two that newborns normally have and unlike the usual newborn soft spots the enlarged parietal foramina remain open throughout life Other signs can include multiple mostly noncancerous benign bone tumours called osteochondromas exostosis developmental delay vision disorders and craniofacial abnormalities 2 It is classified as a rare disease 2 3 Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Management 5 See also 6 References 7 External linksSigns and symptoms editThe signs and symptoms of Potocki Shaffer syndrome vary widely In addition to multiple osteochondromas and enlarged parietal foramina affected individuals often have intellectual disability and delayed development of speech motor skills such as sitting and walking and social skills Many people with this condition have distinctive facial features which can include a wide short skull brachycephaly a prominent forehead a narrow bridge of the nose a shortened distance between the nose and upper lip a short philtrum and a downturned mouth Less commonly Potocki Shaffer syndrome causes vision problems additional skeletal abnormalities and defects in the heart kidneys and urinary tract 4 Genetics editPotocki 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 cases occur in people with no history of the disorder in their family citation needed Diagnosis editPotocki Shaffer syndrome can be detected through array comparative genomic hybridization aCGH citation needed Management editSome symptoms can be managed with drug therapy surgery and rehabilitation genetic counselling and palliative care 4 See also editChromosome nomenclatureReferences edit Online Mendelian Inheritance in Man OMIM 601224 a b c Potocki L Shaffer L G 1996 03 29 Interstitial deletion of 11 p11 2p12 a newly described contiguous gene deletion syndrome involving the gene for hereditary multiple exostoses EXT2 American Journal of Medical Genetics 62 3 319 325 doi 10 1002 SICI 1096 8628 19960329 62 3 lt 319 AID AJMG22 gt 3 0 CO 2 M ISSN 0148 7299 PMID 8882796 Potocki Shaffer syndrome OrphaNet Paris France INSERM March 2006 Retrieved 26 August 2009 a b Reference Genetics Home Potocki Shaffer syndrome Genetics Home Reference Retrieved 2016 09 21 External links editOMIM entry Genetic amp Rare Diseases Information Center entry Archived 2012 09 19 at the Wayback Machine Genetics Home Reference entry Retrieved from https en wikipedia org w index php title Potocki Shaffer syndrome amp oldid 1219018432, wikipedia, wiki, book, books, library,
