Table 1. Frequencies of phenotypic features in probands with 1q21.1 microdeletions.

Feature	Proximal (BP2–BP3) deletions without TAR syndromea	Large (BP2–BP4) deletionsb	Distal (BP3–BP4) deletionsc
Short stature	3/10	7/17	17/47
Failure to thrive/feeding problems	6/11	13/16	21/48d
Microcephaly	3/11	13/16	28/50
Macrocephaly	2/11	0/16	0/50
Developmental delay/intellectual disability	11/12	18/22e,f	45/70d,e,f,g,h
Hypotonia	1/12	2/22	11/59h
Seizures	4/12	2/23f	9/60g,h
Autistic features	4/13i	0/22	6/57f,h,j
Other behavioral problems	4/12	1/22	15/58h
Hearing loss	2/12	4/22	3/58
Brain abnormalities	4/9	2/4	6/11
Dysmorphic features	8/12	14/17	43/57
Cataracts	1/12	0/22	2/58
Other ophthalmologic abnormalities	4/12	4/22	11/58
Craniosynostosis	0/12	1/22	1/58
Skeletal limb abnormalities	1/12	2/22	3/58
Polydactyly	0/12	1/22	8/58
Other skeletal anomalies	3/12	1/22	2/58
Ligamentous laxity	0/12	2/22	5/58
Cardiac anomalies	2/12	5/22	15/58
Lung abnormalities	0/12	2/22	0/58
Renal anomalies	1/12	5/22	4/58
Genital anomalies	1/12	3/22	1/58
Blood disorders	2/12	0/22	0/58

^aSubjects 1–12 from this report, who do not meet clinical criteria for TAR syndrome.

^bPreviously reported probands^{2, 6, 17, 51} and subjects 23–34 from this report.

^cPreviously reported probands^{2, 3, 5, 6, 18, 19, 52} and subjects 56–70 from this report.

^dAlso includes a previously reported proband in a schizophrenia cohort.¹⁵

^eAlso includes previously reported probands in a schizophrenia cohort.¹¹

^fAlso includes previously reported probands in a schizophrenia cohort.¹²

^gAlso includes a previously reported proband in a schizophrenia cohort.¹⁰

^hAlso includes a previously reported proband in an epilepsy cohort.⁵³

ⁱAlso includes a previously reported proband in an autism cohort.²⁵

^jAlso includes a previously reported proband in an autism cohort.⁸