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

Table 4 Clinical features identified in individuals in the present and previous studies with 16p11.2 microdeletion

System	Clinical finding	This report		Previous reports^a
System	Clinical finding	(n = 18)	Frequency	(n = 35)	Frequency
Neurologic	Delayed development with below average intelligence	18	100.0%	34	97.1%
	Speech & language deficits	17	94.4%	29	82.9%
	Hypotonia, with or without hypertonia	7	38.9%	2	5.7%
	Strabismus	3	16.7%
	Abnormal head imaging	3/9	33.3%	1	2.9%
	Seizures or staring spells	2	11.1%	8^b	22.9%
Behavioral	Any behavioral problem	14	77.8%	21	60.0%
	Poor attention or ADHD	8	44.4%	4	11.4%
	Aggression or outbursts	7	38.9%	4	11.4%
	ASD or autistic features	9/16	56.3%	16	45.7%
Constitutional	Weight ≥ 97th percentile	4	22.2%	9	25.7%
Head	Frontal prominence or bossing	5	27.8%	1	2.9%
Face	Flattened midface	5	27.8%	9	25.7%
	Synophrys	3	16.7%
	Bilateral colobomas	1	5.6%
	Broad or prominent nose	4	22.2%	3	8.6%
	Downturned mouth	3	16.7%	1	2.9%
	High palate	3	16.7%	3	8.6%
	Micro/retrognathia	4	22.2%	3	8.6%
Ears	Hearing loss	3	16.7%	1	2.9%
	Fleshy or prominent ears	8	44.4%	1	2.9%
	Hypoplastic, simple, or underfolded ears	4	22.2%	3	8.6%
	Low-set ears	3	16.7%	3	8.6%
	PE tubes	4	22.2%	1	2.9%
Neck	Short, thick, or webbed	4	22.2%	4	11.4%
Hands	Tapered fingers	4	22.2%	2	5.7%
Hands	Abnormal thumbs - proximal, digitalized	2	11.1%	1	2.9%
Feet	2,3 syndactyly	4	22.2%	5	14.3%
Feet	Angled great toe or large sandal gap	3	16.7%
Integument	Nevi or café au lait spots	5	27.8%
Integument	Abnormal fingernails or toenails	6	33.3%	1	2.9%
Heart	Abnormal aorta and/or aortic valve	3	16.7%	2	5.7%
Renal	Hydronephrosis	2	11.1%
Renal	Cystic kidney	1	5.6%
Musculoskeletal	Hypermobile joints	4	22.2%	1	2.9%
GI	Gastroesophageal reflux disease	5	27.8%	1	2.9%
GI	Pyloric stenosis	1	5.6%	1^c	2.9%

^aSubjects reported in (Sebat et al. 2007; Kumar et al. 2008; Weiss et al. 2008; Marshall et al. 2008; Ghebranious et al. 2007; Rosenberg et al. 2006; Shiow et al. 2008; Bijlsma et al. 2009; Fernandez et al. 2009), excluding relatives of probands and those reported in control groups in which clinical information was not provided
^bFebrile seizures were also reported in a brother of a proband who also carried the microdeletion (Fernandez et al. 2009).
^cPyloric stenosis was also seen in an uncle of a proband who also carried the microdeletion (Bijlsma et al. 2009).

ISSN: 1866-1955