{
    "abstract": "17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder [ASD], attention-deficit/hyperactivity disorder [ADHD], schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85%-90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).\nThe diagnosis is established in a proband by detection of the 1.4-Mb heterozygous recurrent deletion at chromosome 17q12 by chromosomal microarray testing or other genomic methods.\n17q12 recurrent deletion syndrome is inherited in an autosomal dominant manner, with approximately 75% of deletions occurring ",
    "authors": [
        {
            "collective": null,
            "firstname": "Margaret P",
            "initials": "MP",
            "lastname": "Adam"
        },
        {
            "collective": null,
            "firstname": "Jerry",
            "initials": "J",
            "lastname": "Feldman"
        },
        {
            "collective": null,
            "firstname": "Ghayda M",
            "initials": "GM",
            "lastname": "Mirzaa"
        },
        {
            "collective": null,
            "firstname": "Roberta A",
            "initials": "RA",
            "lastname": "Pagon"
        },
        {
            "collective": null,
            "firstname": "Stephanie E",
            "initials": "SE",
            "lastname": "Wallace"
        },
        {
            "collective": null,
            "firstname": "Anne",
            "initials": "A",
            "lastname": "Amemiya"
        },
        {
            "collective": null,
            "firstname": "Marissa W",
            "initials": "MW",
            "lastname": "Mitchel"
        },
        {
            "collective": null,
            "firstname": "Daniel",
            "initials": "D",
            "lastname": "Moreno-De-Luca"
        },
        {
            "collective": null,
            "firstname": "Scott M",
            "initials": "SM",
            "lastname": "Myers"
        },
        {
            "collective": null,
            "firstname": "Rebecca V",
            "initials": "RV",
            "lastname": "Levy"
        },
        {
            "collective": null,
            "firstname": "Stefanie",
            "initials": "S",
            "lastname": "Turner"
        },
        {
            "collective": null,
            "firstname": "David H",
            "initials": "DH",
            "lastname": "Ledbetter"
        },
        {
            "collective": null,
            "firstname": "Christa L",
            "initials": "CL",
            "lastname": "Martin"
        }
    ],
    "copyrights": "Copyright \u00a9 1993-2025, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.",
    "doi": null,
    "isbn": null,
    "language": "eng",
    "publication_date": "1993",
    "publication_type": "Review",
    "publisher": "University of Washington, Seattle",
    "publisher_location": "Seattle (WA)",
    "pubmed_id": "20042775\n30601180\n16249435\n33011132\n19889212\n28375157\n36245251\n11522670\n34021396\n26160100\n24582522\n39156164\n32984530\n24705260\n38216274\n35346144\n18039948\n35070826\n30021660\n25536396\n27234567\n29266078\n30819518\n30343275\n22887843\n31066763\n32028929\n27838256\n28420700\n25738250\n17971380\n18037103\n21775974\n21788644\n23979948\n22511894\n25425496\n22130109\n38432894\n22178801\n38699388\n22583611\n37984685\n31843864\n30634886\n26429400\n21858020\n32388583\n38196016\n25741167\n37520763\n25324567\n31481685\n30165646\n22740494\n20797712\n38671621\n31500578\n32708349\n20587423\n34883054\n31198537\n23539225\n17924346\n34828266\n21055719\n33526762\n19844256\n39025920\n21278390\n36969268\n37331978\n30666461\n20633866\n24487052\n30791938\n22432796\n27259053\n25256560\n25500806\n19417042\n27409573\n24991439\n30032214\n23954021\n23159250\n37602145\n16906162\n33928910\n32778765\n32595772\n39221224\n24352232\n38490803\n29576871\n31825128\n36106561\n38922630\n26340261\n31498910\n25893603\n26319241\n37632214\n24472258\n31131025\n23215555\n37737818\n38033996\n38957807\n19639018\n27929632",
    "sections": [
        {
            "chapter": null,
            "title": "Summary"
        },
        {
            "chapter": null,
            "title": "Diagnosis"
        },
        {
            "chapter": null,
            "title": "Clinical Characteristics"
        },
        {
            "chapter": null,
            "title": "Genetically Related Disorders"
        },
        {
            "chapter": null,
            "title": "Differential Diagnosis"
        },
        {
            "chapter": null,
            "title": "Management"
        },
        {
            "chapter": null,
            "title": "Genetic Counseling"
        },
        {
            "chapter": null,
            "title": "Resources"
        },
        {
            "chapter": null,
            "title": "Molecular Genetics"
        },
        {
            "chapter": null,
            "title": "Chapter Notes"
        },
        {
            "chapter": null,
            "title": "References"
        }
    ],
    "title": "GeneReviews"
}