Table 1. Clinical features of individuals in the literature and this report with deletions involving BP3–BP4 at 15q13.1q13.2.

Subject ID; age; gender	Deletion; inheritance	Growth percentiles	Development	Neurological	Eyes	Facial features	Other	Family history
van Bon, pt 19 (reference 7); 2 years 4 months; F	BP3–BP4; paternal	BW: <3rd; Wt: 9th; Ht: <3rd; OFC: <3rd	Delayed	Hypotonia; hearing impairment	NS	Hypertelorism; upslanting palpebral fissures; and prominent nasal root	Brachydactyly	Deletion in normal father, brother, and uncle; deletion not in brother with MR
Rosenberg, pt 11 (reference 8); F	BP3–BP4; maternal	Short stature; and microcephaly	Mild MR	NS	NS	Minor dysmorphisms	Premature breast development	NS
Sharp 543/06 (reference 2); 11 years 8 months; F	BP3–BP4; paternal	Wt: 97th; Ht: 25th; OFC: 50–75th	Delayed	NS	Coloboma	Flattened midface; anteverted nostrils; and prognathism; synophrys	Ureteral ectasia	Father is normal
Subject 1; 13 years 10 months; M	BP3–BP4; maternal	FTT in early childhood; Wt: 25–50th; Ht: 25th; OFC: 90th	IQ 71, speech apraxia	Normal head CT scan; seizures; hypotonia; and mild-moderate conductive hearing loss	Hyperopia; amblyopia/esotropia	Frontal bossing; hypertelorism; broad nasal tip; upturned nares; flat philtrum; large ears; dolichocephaly; bifrontal narrowing; downslanting palpebral fissures; overcrowded teeth; high palate; and low ears	Large anterior fontanel, pectus excavatum; broad fingers and hands	Mother is normal; maternal half brother and 2 maternal first cousins (not tested) with LD; paternal uncle with MR
Subject 2; 4 years 5 months; F	BP3–BP4; de novo	Wt: 10–25th; Ht: 25th; OFC: 3rd	Mild delays	Hypotonia; occasional tantrums	Asymmetric optic nerve cupping	Nondysmorphic	NS	NS
Subject 3; 6 years 5 months; M	BP3–BP4; maternal	FTT in early childhood; Wt: 50th; Ht: 50th; OFC: 98th	Moderate delays, significant speech delays	Ventricle dilatation; prominent extra-axial CSF spaces; hypotonia; disrupted sleep; and ataxic gait	Nystagmus, resolved	Prominent forehead; bifrontal prominence; long face; and triangular chin	Complex CHD; cryptorchidism; inguinal hernias; finger camptodactyly, and clinodactyly; hyperextensible; severe GERD; frequent infections	Mother is normal
Subject 4; 8 years 9 months; F	Atypical, within BP3–BP4; unknown	Wt: 10–25th; Ht: <3rd; OFC: 2nd	Severely delayed	Normal MRI; seizures; severe hypotonia and weakness; and food aversion	Rotary nystagmus/strabismus	Short forehead; deep-set eyes; high palate; and crowded teeth	Fifth finger clinodactyly	Mother with visual problems and strabismus
Subject 5; 4 years 2 months; F	BP3–BP5; de novo	FTT in early childhood; Wt: 25–50th; Ht: 10th; OFC: <5th	Delayed	Hypotonia; periventricular leukomalacia; thinning of the corpus callosum; mega cisterna magna; and unusual hand movements	Normal	Natal teeth; small facial structure; prominent ears; and deep-set eyes	Premature breast development	Father with LD
van Bon, pt 17 (reference 7); 17 years; M	BP3–BP5; de novo	Wt: 90-95th; Ht: 3-10th; OFC: 3rd	Mild MR, dyspraxia	Hypotonia; profoundly hyperactive; and normal head imaging	NS	Upslanting palpebral fissures; synophrys; short nose with upturned nasal tip; smooth philtrum; and hypotelorism	Pubertas praecox; gynecomastia; shawl scrotum; scoliosis; fifth finger clinodactyly; brachydactyly	Half uncles with LD
van Bon, pt 18 (reference 7); 8 years; M	BP3–BP5; unknown	Wt: 9th; Ht: 25th; OFC: 25th	Delayed	Hypotonia; friendly; and poor concentration	NS	Long, downslanting palpebral fissures; long eyelashes; arched eyebrows; large ears; and large mouth	Prominent finger pads and broad fingertips; short fifth fingers	Mother, brother, and half sibs with LD/DD
Sharp IMR338 (reference 2); F	BP3–BP5; maternal	Ht: 97th; OFC: >97th	Delayed; speech difficulty	Seizures; white matter changes; and increased appetite	Squint; right optic pit – possible coloboma	Round flat face; upslanting palpebral fissures; epicanthal folds; and posteriorly rotated ears	Lax thumb joint; fifth finger clinodactyly; single-palmar crease; diabetes	Deletion present in mother and half sister, who are dysmorphic, have delays, and are epileptic
Helbig 40281601 (reference 20); F	BP3–BP5; unknown	NS	Normal cognition	Seizures	NS	NS	NS	NS
Ben-Shachar, pt F1-1 (reference 18)	BP3–BP5; unknown	Ht: 50th; Wt: 30th; OFC ≫97th	DQ 58	Benign hydrocephalus; mild Chiari I; ASD; and stereotypic behaviors	NS	NS	NS	Adopted

Abbreviations: ASD, autism spectrum disorder; BW, birth weight; CHD, congenital heart defect; DD, developmental delay; DQ, developmental quotient; F, female; FTT, failure to thrive; GERD, gastroesophogeal reflux disease; Ht, height; IQ, intelligence quotient; LD, learning disabilities; M, male; MR, mental retardation; NS, not specified; OFC, occiptofrontal circumference; pt, patient; Wt, weight.