TABLE II.

Adolescents and Adults With 6p25-pter Deletions

Case reports	[Le Caignec et al., 2005]	[Jalal et al., 1989]	[Palmer et al., 1991]	[Law et al., 1998; Davies et al., 1999b]	[Mirza et al., 2004]	Current case
Age (y)	15	21	18	32	201	36
Sex	Female	Female	Female	Male	Female	Female
Extent of deletion	6p25 8 Mb	6p23-pter	6p23-pter	6p24.3-pter 6.7 Mb	6p25.1-pter 6.57 Mb	6p25-pter 6.7 Mb
Mental retardation		Severe	Severe	(Mild) learning difficulties		Mild to moderate
Neurobehavioral phenotype						Schizophrenia
Functioning		Reduced	Reduced	Full time factory job		Day program activities
Speech	Delayed	Delayed	Delayed	Severely delayed	Slow	No delay; mild articulation problems
Motor				Delayed; hypotonia	Delayed	No delay or hypotonia
Structural brain anomalies						Moderate atrophy; white matter changes
OFC	+1 SD	2nd centile		90th centile	Macrocephaly	75th centile
Height	−1 SD	<5th centile		9–25th centile		10th centile
Characteristic facies	Yes			Yes	Yes	Yes
Cardiac defect			No	Bicuspid aortic valve		No
Anterior eye chamber anomaly	Yes			Yes; bilateral	Yes	Yes; bilateral
Vision	Divergent strabismus			Poor; divergent squint	Divergent squint	Normal; strabismus
Hearing deficit	Bilateral conductive			Profound; progressive sensorineural	Conductive	Progressive sensorineural, conductive
Myringotomy tubes				Yes; bilateral	Yes	Yes; multiple
Genitalia				Hypogonadism
Other	Left mammary hypoplasia; hypodontia; hypoplastic malleus on CT scan	Dental abnormalities; telangiectasia	Prognathism; supranumerary nipple; clumsy gait	Vasculitis; abdominal hernias; cleft uvula	Perthes disease; dental abnormalities; pigmentary retinopathy	Prognathism; gallstones; bilateral valgus deformity

Blank, not reported/not mentioned.

¹Phenotypic findings from age 13 years; phenotypes with later onset would not be documented.