About: Potocki–Shaffer syndrome

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Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, 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.

Attributes	Values
rdf:type	Thing Disease yago:WikicatAutosomalMonosomiesAndDeletions yago:WikicatCongenitalDisorders yago:Aberrance114503665 yago:Abnormality114501726 yago:Abstraction100002137 yago:Anomaly114505821 yago:Attribute100024264 yago:BirthDefect114465048 yago:ChromosomalAberration114504103 yago:Cognition100023271 yago:Complex105870365 yago:Concept105835747 yago:Condition113920835 yago:Content105809192 yago:Defect114464005 yago:Disease114070360 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:Monosomy114504405 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	Potocki-Shaffer-Syndrom (de) Potocki–Shaffer syndrome (en)
rdfs:comment	Das Potocki-Shaffer-Syndrom (englisch Potocki-Shaffer syndrome) ist ein sehr seltenes genetisch bedingtes Syndrom des Menschen, das verschiedene Veränderungen am Skelettsystem hervorruft. Ursache ist eine Chromosomenmutation mit Deletion mehrerer benachbarter Gene im Abschnitt 11p11.2 auf dem Chromosom 11. Synonyme in der anglo-amerikanischen Literatur sind chromosome 11p11.2 deletion syndrome, P11pDS und proximal 11p deletion syndrome. Die Störung als Syndrom wurde 1996 von L. Potocki und L. G. Shaffer erstbeschrieben. (de) Potocki–Shaffer syndrome (PSS), also known as DEFECT11 syndrome or chromosome 11p11.2 deletion syndrome, 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. (en)
foaf:name	Potocki–Shaffer syndrome (en)
name	Potocki–Shaffer syndrome (en)
dcterms:subject	Autosomal monosomies and deletions Congenital disorders Rare syndromes Syndromes
Wikipage page ID	24127381 (xsd:integer)
Wikipage revision ID	1053597778 (xsd:integer)
Link from a Wikipage to another Wikipage	Motor skills disorder Developmental delay Urinary tract Vision disorder Genetic counseling Rare disease Brachycephaly Contiguous gene syndrome Osteochondroma Autosomal monosomies and deletions Lorraine Potocki Parent Surgery Chromosome Congenital disorders Rare syndromes Heart Fetal development Social skills Syndromes Kidney Sperm Intellectual disability Chromosome 11 (human) Chromosome nomenclature Palliative care Exostosis Congenital abnormality Rehabilitation counseling Philtrum Pharmacotherapy Parietal foramina Bone tumour Microdeletion Benign Array comparative genomic hybridization Craniofacial abnormalities Down-turned mouth Reproductive cells Vision problems Short arm
Link from a Wikipage to an external page	http://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome http://rarediseases.info.nih.gov/GARD/Condition/9762/PotockiShaffer_syndrome.aspx https://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi%3Fid=601224
sameAs	Potocki–Shaffer syndrome Potocki–Shaffer syndrome Potocki–Shaffer syndrome Potocki–Shaffer syndrome Potocki–Shaffer syndrome
SNOMED CT	702346005 (xsd:integer)
dbp:wikiPageUsesTemplate	dbt:Citation_needed dbt:Cn dbt:Infobox_medical_condition_(new) dbt:Medical_resources dbt:Reflist
DiseasesDB	33344 (xsd:integer)
ICD	Q93.5 (en)

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