About: 1q21.1 deletion syndrome

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1q21.1 deletion syndrome is a rare aberration of chromosome 1. A human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 deletion syndrome, one chromosome of the pair is not complete, because a part of the sequence of the chromosome is missing. One chromosome has the normal length and the other is too short. In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of the long arm in which the deletion is situated.

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:GeneticDisease114151139 yago:Idea105833840 yago:IllHealth114052046 yago:Illness114061805 yago:Imperfection114462666 yago:Monosomy114504405 yago:PathologicalState114051917 yago:PhysicalCondition114034177 yago:PsychologicalFeature100023100 yago:WikicatGeneticDisorders disease yago:State100024720 yago:Syndrome105870790 yago:Whole105869584 yago:WikicatSyndromes
rdfs:label	متلازمة الحذف1q21.1 (ar) 1q21.1-Deletionssyndrom (de) 1q21.1 deletion syndrome (en) 1q21.1-deletiesyndroom (nl)
rdfs:comment	متلازمة الحذف أو 1q21.1 (المتكررة) (بالإنجليزية: 1q21.1 deletion syndrome)‏ هو انحراف نادر من كروموسوم ١. في الحالة الشائعة يكون لدى الخلية البشرية زوج واحد من الكروموسومات المتطابقة على كروموسوم 1، أما مع متلازمة حذف 1q21.1 كروموسوم واحد تكون الأزواج من الكروموسومات ليست كاملة؛ لأن جزءًا من تسلسل الكروموسوم يكون مفقودًا، ويكون أحد الكروموسومات يحتوي على طول طبيعي والآخر قصير جدًا. النمط الظاهري ومظاهره في الأفراد متغير تمامًا؛ فبعض الناس الذين لديهم متلازمة يمكن أن تعمل بشكل طبيعي، في حين أن آخرين يعانون أعراض التخلف العقلي، والتشوهات الجسدية المختلفة. (ar) 1q21.1 deletion syndrome is a rare aberration of chromosome 1. A human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 deletion syndrome, one chromosome of the pair is not complete, because a part of the sequence of the chromosome is missing. One chromosome has the normal length and the other is too short. In 1q21.1, the '1' stands for chromosome 1, the 'q' stands for the long arm of the chromosome and '21.1' stands for the part of the long arm in which the deletion is situated. (en) Das 1q21.1-Deletionssyndrom ist ein seltenes Syndrom, welches durch eine Deletion auf dem menschlichen Chromosom 1 an der Stelle 1q21.1 verursacht wird. Folgen dieser Veränderung können mentale Retardierung und verschiedene körperliche Anomalien sein. Die Penetranz und Expressivität sind variabel. Einige Menschen mit dieser Deletion weisen keine erkennbare Beeinträchtigung auf. Unique, eine internationale Vereinigung von Menschen mit seltenen chromosomalen Abweichungen, kennt 64 registrierte Menschen mit dieser Deletion weltweit. (Stand: Oktober 2012) (de) Het 1q21.1-deletiesyndroom (of 1q21.1-deficiëntiesyndroom) is een zeldzame afwijking van chromosoom 1. Normaal bevat een menselijke cel één paar identieke chromosomen op chromosoom 1. Bij 1q21.1-deficiëntiesydroom is één chromosoom van het paar chromosomen niet compleet, doordat delen van de sequentie van het chromosoom ontbreken. Een van de chromsomen heeft daardoor de normale lengte en het andere is te kort. Unique, de internationale vereniging van mensen met een zeldzame chromosoomafwijking, kent 64 geregistreerde gevallen wereldwijd (oktober 2012). (nl)
foaf:name	1q21.1 deletion syndrome (en)
name	1 (xsd:integer)
foaf:depiction
dcterms:subject	Syndromes affecting the heart Autosomal monosomies and deletions Animal developmental biology Congenital disorders Hematology Syndromes affecting the nervous system
Wikipage page ID	28395600 (xsd:integer)
Wikipage revision ID	1099200184 (xsd:integer)
Link from a Wikipage to another Wikipage	Cataract BCL9 Schizophrenia Epilepsy FMO5 GPR89B Syndromes affecting the heart Copy-number variation Meiosis Gene duplication Neocortex Neuron Non-allelic homologous recombination Brain Copy number variation Autosomal monosomies and deletions Apes Mammals Deletion (genetics) Macrocephaly Tetralogy of Fallot Autism Autosomal dominant GJA5 GJA8 Helicase 3q29 microdeletion syndrome DUF1220 Base pair Chromatid Chromosomal inversion Chromosomal translocation Chromosome 1 Fluorescence in situ hybridization Haploinsufficiency Protein 1q21.1 copy number variations 1q21.1 duplication syndrome Animal developmental biology Congenital disorders Hematology Syndromes affecting the nervous system Phenotype Microcephaly Neuroblastoma CHD1L Werner syndrome

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