Microdeletions at 17q12 may have a number of clinical findings.

Genes involved: HNF1B


Inheritance: autosomal dominant


Clinical findings include:

(1) congenital abnormalities of the kidney and urinary tract (cystic dysplasia of the kidneys, renal dysplasia, renal hypoplasia, single kidney, horseshoe kidney, poor cortico-medullary differentiation, collecting system abnormalities)

(2) tubulointerstitial renal disease (17q12 nephropathy, with hypomagnesemia, hypokalemia and reduced urine concentrating ability)

(3) diabetes (maturity-onset diabetes of the young, MODY)

(4) developmental delay and intellectual disability

(5) autism spectrum disorder

(6) other neuropsychiatric disorders (bipolar, schizophrenia)

(7) Mullerian aplasia in females (Mayer-Rokitansky-Hauser syndrome)

(8) genital anomalies in males (cryptorchidism, phimosis, urethral stenosis, hypospadias)

(9) liver abnormalities

(10) eye abnormalities (strabismus, nystagmus, hypermetropia, cataracts, coloboma)


Dysmorphic features:

(1) high forehead

(2) frontal bossing

(3) depressed nasal bridge

(4) deep set eyes

(5) downslanting palpebral fissures

(6) high-arched eyebrows

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