About: 17q12 microdeletion syndrome

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17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes syndrome. It also has neurocognitive effects, and has been implicated as a genetic factor for autism and schizophrenia.

Attributes	Values
rdf:type	Thing Disease disease
rdfs:label	متلازمة الحذف الصغير 17q12 (ar) 17q12 microdeletion syndrome (en) 17q12微缺失综合征 (zh)
rdfs:comment	متلازمة الحذف الصغير 17q 12 هي شذوذ صبغي نادر ينتج عن حذف كمية صغيرة من المادة الوراثية من منطقة معينة في الذراع الطويلة للصبغي 17. تتميز هذه المتلازمة بحذف الجين HNF1B، ما يؤدي إلى شذوذات وتكيسات كلوية وتؤهب للإصابة بالداء السكري، ولهذه المتلازمة أيضًا تأثير على القدرات المعرفية والحالة العصبية، ويمكن اعتبارها عاملًا جينيًا مؤهبًا للإصابة بمرض التوحد والفصام. (ar) 17q12微缺失综合征（英語：17q12 microdeletion syndrome），又称17q12缺失综合征，是一种罕见的染色体异常，由17号染色体长臂区域的少量物质缺失引起。其典型特征是基因缺失，导致肾脏异常、肾囊肿和糖尿病综合征。它还具有神经认知效应，并被认为是自闭症和精神分裂症的遗传因素。 17q12微缺失综合征與「17q12微重复综合征」（17q12 microduplication syndrome）為不同疾病，17q12微重复综合征由在微缺失中移除的同一区域添加遗传物质引起。另一種名稱相像的不同疾病則是又稱為库伦综合征的「」。 (zh) 17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes syndrome. It also has neurocognitive effects, and has been implicated as a genetic factor for autism and schizophrenia. (en)
name	17 (xsd:integer)
foaf:depiction
dcterms:subject	Autism spectrum disorders Chromosomal abnormalities Chromosomes Genetic anomalies Genetics of autism Kidney diseases Schizophrenia
Wikipage page ID	66610778 (xsd:integer)
Wikipage revision ID	1098610910 (xsd:integer)
Link from a Wikipage to another Wikipage	Schizophrenia Epilepsy Developmental delay Lithium (medication) Unibrow Uterus De novo mutation Penetrance Autism spectrum disorders Chromosomal abnormalities Chromosomes Genetic anomalies Genetics of autism Kidney diseases Schizophrenia Deletion (genetics) Macrocephaly Microdeletion syndrome Autism Autism spectrum disorder Autosomal dominant HNF1B Karyotype Aneuploidy Pancreas Causes of autism Chromosome 17 Fluorescence in situ hybridization Koolen–De Vries syndrome Zygomatic bone Speech delay Karyotyping Syndactyly Intellectual disability Neuroatypicality Neuroleptic Short stature Müllerian agenesis Proband Sex reversal Renal cysts and diabetes syndrome Risk factors of schizophrenia Chromosomal anomaly Epicanthic folds Vaginal canal
sameAs	17q12 microdeletion syndrome 17q12 microdeletion syndrome 17q12 microdeletion syndrome 17q12 microdeletion syndrome 17q12 microdeletion syndrome
dbp:wikiPageUsesTemplate	dbt:Good_article dbt:Medical_resources dbt:Reflist dbt:Short_description dbt:Chromosomal_abnormalities dbt:Infobox_medical_condition
thumbnail	wiki-commons:Special:FilePath/Human_male_karyotype_high_resolution_-_Chromosome_17.png?width=300
diagnosis	Fluorescence in situ hybridization
onset	Conception (en)
symptoms	Kidney problems, diabetes, reproductive anomalies, neuroatypicality (en)
synonym	17 (xsd:integer)
caption	The human karyotype with chromosome 17 highlighted (en)
causes	Chromosome microdeletion (en)
duration	Lifelong (en)
has abstract	متلازمة الحذف الصغير 17q 12 هي شذوذ صبغي نادر ينتج عن حذف كمية صغيرة من المادة الوراثية من منطقة معينة في الذراع الطويلة للصبغي 17. تتميز هذه المتلازمة بحذف الجين HNF1B، ما يؤدي إلى شذوذات وتكيسات كلوية وتؤهب للإصابة بالداء السكري، ولهذه المتلازمة أيضًا تأثير على القدرات المعرفية والحالة العصبية، ويمكن اعتبارها عاملًا جينيًا مؤهبًا للإصابة بمرض التوحد والفصام. (ar) 17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes syndrome. It also has neurocognitive effects, and has been implicated as a genetic factor for autism and schizophrenia. 17q12 microdeletion syndrome is not to be confused with 17q12 microduplication syndrome, caused by the addition of genetic material in the same region from which it is removed in the microdeletion, or 17q21.31 microdeletion syndrome, another name for Koolen–De Vries syndrome. (en) 17q12微缺失综合征（英語：17q12 microdeletion syndrome），又称17q12缺失综合征，是一种罕见的染色体异常，由17号染色体长臂区域的少量物质缺失引起。其典型特征是基因缺失，导致肾脏异常、肾囊肿和糖尿病综合征。它还具有神经认知效应，并被认为是自闭症和精神分裂症的遗传因素。 17q12微缺失综合征與「17q12微重复综合征」（17q12 microduplication syndrome）為不同疾病，17q12微重复综合征由在微缺失中移除的同一区域添加遗传物质引起。另一種名稱相像的不同疾病則是又稱為库伦综合征的「」。 (zh)
prov:wasDerivedFrom	wikipedia-en:17q12_microdeletion_syndrome?oldid=1098610910&ns=0
page length (characters) of wiki page	13834 (xsd:nonNegativeInteger)
OMIM id	614527 (xsd:integer)
foaf:isPrimaryTopicOf	wikipedia-en:17q12_microdeletion_syndrome
is Link from a Wikipage to another Wikipage of	Schizophrenia List of genetic disorders 17q12 deletion syndrome 17q12 microduplication syndrome Monosomy Chromosome 17 Chronic kidney disease

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