Table e-2 Clinical characteristics of individuals reported with a 17q12 deletion

Individual / Sex / Size / Inheritance / CI / Seizures / Other neurological or
psychiatric features / MRI / Renal abnormalities and/or diabetes mellitus / Other clinical features / Controls / Ref
1 / 1.8Mb / (Fetal tissue) / n.a. / n.a. / - / n.a. / + / n.a. / 0/960 / (9)
2 / M / 1.5Mb / De novo / - / - / - / + / Cryptorchidism, pancreatic atrophy / - / (9)
3 / 1.5Mb / De novo / - / - / - / + / - / - / (9)
4 / 1.5Mb / De novo / - / - / - / + / - / - / (9)
5 / 1.5Mb / inherited / - / - / - / + / - / - / (9)
6 / 1.5Mb / De novo / - / - / - / + / - / - / (9)
7 / 1.5Mb / De novo / - / - / - / + / Pelvic dilatation / - / (9)
8 / 1.5Mb / De novo / - / - / - / + / - / - / (9)
9 / 1.5Mb / De novo / - / - / - / + / - / - / (9)
10 / F / 1.8Mb / De novo / + / + (onset at age 1 year) / - / - / MRKH, mild dysmorphic facies / (10)
11 / F / 1.5Mb / De novo / - / - / - / + / MRKH / (19)
12 / F / 1.5Mb / De novo / - / - / - / + / MRKH, mild dysmorphic facies / (19)
13 / M / 1.4Mb / Maternal / + / - / ASD / + / Short stature, dysmorphic facies / 0/4,519 / (13)
14 / F / Mild ID / - / Bipolar disorder / + / Dysmorphic facies
15 / F / 1.4Mb / De novo / Mild ID / - / Depression, migraine / + / Dysmorphic facies / - / (13)
16 / M / 1.4Mb / De novo / Mild ID / - / ASD / - / Dysmorphic facies / - / (13)
17 / M / 1.4Mb / De novo / + / - / ASD, mild hypotonia / - / Dysmorphic facies / - / (13)
18 / M / 1.4Mb / De novo / Severe ID / - / ASD, hypotonia, auditory hypersensitivity, decreased pain sensitivity / - / Dysmorphic facies, eye abnormality / - / (13)
19 / F / 1.4Mb / De novo / Mild ID / - / - / + / Dysmorphic facies / - / (13)
20 / M / 1.4Mb / De novo / + / Single FS (normal EEG) / ASD / - / Pelvic dilatation, dysmorphic facies / - / (13)
21 / M / 1.4Mb / De novo / + / - / ASD, mild hypotonia / + / Dysmorphic facies / - / (13)
22 to 32 / 7 M - 2 F / 1.4Mb / + / - / ASD / - / - / - / (13)
33 to 36 / 1 M - 3 F / 1.4Mb / - / - / Schizophrenia / - / - / 0/43,076 / (13)
37 / M / 1.06Mb - 2.46Mb / + / - / - / nl / + / Short stature / (11)
38 / M / 1.06Mb - 2.46Mb / De novo / - / - / - / nl / + / Short stature, oligohydramnios / (11)
39 / F / 1.06Mb - 2.46Mb / Not maternal * / + / GTCS, complex partial / - / Hyper-intensities in hippocampi / - / Short stature / (11)
40 / F / 1.06Mb - 2.46Mb / Moderate ID / Complex partial / Bilateral sensorineural hearing loss / Cerebral and hippocampal atrophy / + / Short stature / (11)
41 to 43 / + / - / ASD / Mild ventricular dilatation / + / - / (20)
44 / De novo / - / - / + / Prune belly syndrome / (21)
45 / F / 1.82Mb / - / - / - / Type 1 MRKH / (22)
46 / F / 1.43Mb / - / - / + / Type 2 MRKH / (22)
47 / F / 1.4Mb / Maternal / + / - / ASD / - / - / (23)
48 / M / 1.4Mb / Maternal / Mild delay / - / - / + / -
49 / F / 1.4Mb / Learning difficulties / - / - / - / -
50 / F / 1.73Mb / De novo / + / - / ASD / nl / + / Eczema, hypercalcemia / (23)
(24)
51 / M / 2.07Mb / Speech delay / - / Mild hypotonia / + / Coronal hypospadias, dysmorphic facies, hypercalcemia / (24)
52 / M / 1.6Mb / Maternal / - / - / - / + / Dysmorphic facies, hypercalcemia / (24)
53 / F / - / - / - / + / - / (24)
54 / F / 1.43Mb / - / - / - / + / MRKH, hyperelasticity syndrome / (25)
55 / 1.52Mb / (Fetal tissue) / n.a. / n.a. / - / n.a. / + / CDH, cystic left lung / (16)

Renal abnormalities include dysplastic, (multi) cystic, hypo-plastic or abnormal kidneys, and kidney agenesis. Families are grouped in grey or white. Empty fields were unspecified or not assessed.

Abbreviations: Mb = megabases; CI = cognitive impairment; M = male; F = female; + = present; - = absent; nl = normal; ASD = autism spectrum disorder; GTCS= generalized tonic clonic seizures; FS = febrile seizure; MRKH = Mayer-Rokitansky-Kuster-Hauser syndrome; n.a. = not applicable; CDH = congenital diaphragmatic hernia

* mother was diagnosed with GTCS and multiple renal cysts but did not carry the 17q12 deletion; father was unavailable for testing