Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications

Table 6 Clinical features identified in individuals in the present and previous studies with 16p11.2 microduplication

System	Clinical finding	This report	Previous reports^a
System	Clinical finding	(n = 10)^b	(n = 16)
Neurologic	Delayed development and/or below average intelligence	8	16
	Speech & language deficits	8	14
	Hypotonia, with or without hypertonia	4	2
	Strabismus	2
	Abnormal MRI	4/6	1
	Seizures or staring spells	1	2
Behavioral	Any behavioral problem	5	12
	Poor attention or ADHD	3
	Aggression or outbursts	4
	ASD or autistic features	1/8	11
Head	Frontal prominence or bossing	2	1
	Microcephaly	3
	Anterior hair whorl/asymmetric hair whorl	3
Face	Epicanthal folds	7
	Telecanthus or hypertelorism	3
	Downslanting palpebral fissures	3
	Broad or prominent nose	4
	Shallow nasal bridge	2
	Micro/retrognathia	2
Ears	Preauricular pits	3
Ears	Prominent ears	2
Back	Sacral dimple	2
Feet	Third toe curvature	2
Integument	Nevi or café au lait spots	2
Diaphragm	Congenital diaphragmatic hernia	1	1
Heart	Patent ductus areteriosus	1
Renal	Reflux	2
	Horseshoe kidney	1
	Duplicated collecting system	1
GI	Gastroesophageal reflux disease	3
GI	Malrotation	1

^aSubjects reported in (Fernandez et al. 2009; Kumar et al. 2008; Marshall et al. 2008; Weiss et al. 2008), excluding those reported in control groups whose clinical information was not provided and two subjects with childhood-onset schizophrenia without further clinical information (Walsh et al. 2008)
^bSome subjects in this report had other factors complicating the phenotype, including other genetic diagnoses (Beckwith-Wiedemann, PKU, and methylmalonic aciduria) and complicated social histories.

ISSN: 1866-1955