17q12 microdeletion syndrome
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.
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17q12 microdeletion syndrome
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.
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17q12 microdeletion syndrome, ...... for Koolen–De Vries syndrome.
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OMIM id
Wikipage page ID
66,610,778
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1,022,645,153
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caption
The human karyotype with chromosome 17 highlighted
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causes
Chromosome microdeletion
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diagnosis
duration
Lifelong
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onset
Conception
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symptoms
Kidney problems, diabetes, reproductive anomalies, neuroatypicality
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17q12 microdeletion syndrome, ...... for autism and schizophrenia.
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label
17q12 microdeletion syndrome
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