Table II.

Comparison of phenotypes in patients with the 8p23.2-pter deletion and 8p23.1 deletion.

Clinical features	8p23.2-pter deletion	Current patient	8p23.1 deletion (terminal or interstitial)
DD/ID	+	+	+
Speech delay	+	+	+
Growth retardation	+	+	+
Neurobehavioral disorders	+	+	+
ASD	+	+	+
ADHD	+	+	+
Aggressiveness	+	−	+
Impulsiveness	+	−	+
Craniofacial features	+	+	+
Microcephaly	+	+	+
Brachycephaly	+	−	−
Palpable metopic ridge	+	−	−
Low-set ears	+	+	+
Malformed ears	+	+	+
Upslanting palpebral fissures	+	−	+
Epicanthal folds	+	+	+
Eye abnormalities	+	−	+
Bulbous nasal tip	−	−	+
Long philtrum	+	+	−
Widely spaced nipples	−	−	+
Thin upper lip	−	−	+
Micrognathia	−	−	+
Congenital heart disease	−	−	+
Congenital diaphragmatic hernia	−	−	+
Hypospadias	−	−	+
Cryptorchism	−	−	+
Short fingers	−	−	+
Seizure	+	−	+

DD, developmental delay; ID, intellectual disability; ASD, autism spectrum disorder; ADHD; attention-deficit/hyperactivity disorders.