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.
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17q12microdeletionsyndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material...
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1p36 deletion syndrome – a partial monosomy caused by a deletion at the end of the short arm of chromosome 1 17q12microdeletionsyndrome – a partial monosomy...
Chen B, Zhang J (2019-05-17). "Prenatal diagnosis of 17q12microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities". Molecular...
intragenic HNF1B mutations or affect other genes as well, such as in 17q12microdeletionsyndrome.[citation needed] Genetic Testing for mutations on the HNF1B...
as limb anomalies, syndromes involving multiple systems, and Down syndrome. Recent studies have concluded that 5-9% of Down syndrome cases are due to paternal...
Genetic congenital disease such as polycystic kidney disease or 17q12microdeletionsyndrome. Mesoamerican nephropathy, is "a new form of kidney disease that...
to genes on chromosome 17: 17q12microdeletionsyndrome Koolen–de Vries syndrome Alexander disease Andersen–Tawil syndrome Aneurysmal bone cyst Bipolar...
risk of miscarriage, including diabetes, endometriosis, polycystic ovary syndrome (PCOS), hypothyroidism, certain infectious diseases, and autoimmune diseases...
nonhomologous chromosomes). Polysomy is found in many diseases, including Down syndrome in humans where affected individuals possess three copies (trisomy) of...
risk of both autism and schizophrenia include 15q11.2 microdeletions and 17q12microdeletionsyndrome. Moreover, the specific predictions the imprinted brain...
v t e Schizophrenia Causes and risk factors 17q12microdeletionsyndrome Animal model of schizophrenia Dopamine hypothesis of schizophrenia Estrogen Epigenetics...
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