chromosome 17q12 deletion syndrome

Chromosome 17q12 deletion syndrome, sometimes called 17q12 microdeletion syndrome, is a multi-system condition caused by the loss of a small segment of genetic material on the long arm of chromosome 17. The deletion can disturb kidney development, blood-sugar regulation, and brain maturation, so features often span the renal, endocrine, and neurological systems. Symptoms usually begin in childhood, although some health issues such as diabetes may not appear until adolescence or adulthood. The condition is considered very rare, affecting fewer than one in a million people worldwide. Severity and symptoms vary widely between individuals.

The clinical picture is highly variable, and not all individuals experience every feature. Neurological and developmental features are common. Many children have cognitive challenges, speech delay, autistic traits, or broader autism spectrum disorder. Seizures can occur, and some adolescents or adults develop psychiatric symptoms such as schizophrenia. Kidney involvement is often the first clue. Cystic or dysplastic kidneys may be found on prenatal ultrasound or early childhood imaging, and some people develop reduced kidney function over time. Urinary tract anomalies, including urethral narrowing, may accompany the renal changes. Endocrine complications include maturity-onset diabetes of the young type 5, which can emerge in the teen years or later, and transient elevations of blood calcium levels in infancy. Reproductive and gynecologic findings are described in females, including Müllerian aplasia and ovarian cysts. Growth and skeletal findings may include macrocephaly, scoliosis, long slender fingers or toes, and nail abnormalities such as small or unusually curved nails. Mild facial differences—high forehead, deep-set eyes, full cheeks, epicanthal folds, or prominent ears—may be noted but are often subtle. Because the syndrome can involve many organ systems, ongoing monitoring helps identify emerging problems before they become serious.

Chromosome 17q12 deletion syndrome results from a missing segment of DNA on chromosome 17 at band q12. Losing this stretch of genetic material disturbs the function of several genes that together influence kidney development, pancreatic insulin production, and brain development. The condition follows an autosomal dominant inheritance pattern, meaning one copy of the deletion is sufficient to cause symptoms. A parent who has the deletion has a 50 percent chance of passing it to each child. Even within the same family, the specific symptoms and their severity can vary considerably (variable expressivity). Genetic counseling is recommended for affected individuals and their relatives to discuss testing options, family planning, and health surveillance.

Currently, management focuses on supportive care and symptom control tailored to each person’s needs. Kidney health is monitored through regular blood tests, blood-pressure checks, and imaging studies; early detection of declining kidney function allows timely referral to nephrology. Blood sugar should be checked periodically, and individuals who develop diabetes work with endocrinology to manage glucose levels. Seizures are treated with standard anti-seizure medications, and neurodevelopmental therapies—including speech, occupational, and behavioral therapies—support learning and daily functioning. Because the condition can affect multiple organs, long-term care is best provided by a multidisciplinary team that may include nephrology, endocrinology, neurology, developmental pediatrics, and mental-health professionals. Regular surveillance is an essential part of long-term care, helping to identify potential complications before they become serious. Genetic counseling offers guidance on inheritance, reproductive options, and coordination of specialist follow-up. Patients should discuss treatment plans with their health-care team to determine which interventions are most appropriate for their specific situation.

Long-term outlook depends on which organ systems are involved and how early complications are detected and managed. Many individuals lead active lives into adulthood, especially when kidney function and blood-sugar levels are closely monitored and treated. Cognitive and behavioral challenges can affect schooling, employment, and daily life, but early educational supports and therapies improve skills and independence. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialist centers and patient organizations, and genetic counseling can provide guidance for future planning.

Clinical trials are underway exploring new treatment approaches and ways to better understand the syndrome’s natural history. Individuals interested in research participation can search ClinicalTrials.gov or consult their care team about eligibility and potential benefits.