Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region

Figures & data

Figure 1 MMPI-2-RF restructured clinical scale profile of the patient with a de novo, approximately 970 kb interstitial deletion in 16p11.2.

Note: Scale scores are uniform T scores.
Abbreviations: MMPI-2-RF, Minnesota Multiphasic Personality Inventory 2 Restructured Form; RCd, Demoralization; RC1, Somatic Complaints; RC2, Low Positive Emotions; RC3, Cynicism; RC4, Antisocial Behavior; RC6, Persecutory Ideation; RC7, Dysfunctional Negative Emotions; RC8, Aberrant Experiences; RC9, Hypomanic Activation.

Figure 2 Array plot of chromosome 16 and schematic representation of the distal 16p11.2 region.

Notes: (A) Array plot of chromosome 16 of the patient with an interstitial deletion of 970 kb in 16p11.2 (red rectangle). (B) Schematic representation of the distal region of 16p11.2. Positions of genes and deletions are shown relative to the low copy repeat blocks within the 16p11.2 region (BP1 through BP5). The enlarged view of the distal 16p11.2 region is a screen shot of the UCSC Genome Browser Build 37/hg19 (http://genome.ucsc.edu/).

Table 1 Overview of patients with de novo 16p11.2 deletions (partially) overlapping the present deletion

Author	Large/distal only	Size/position	Developmental delay	Facial dysmorphisms	Neuropsychiatry and cognition	Other
Battaglia et al^Citation4	Large	~8,2 Mb (21,3–29,5)	+	+	Hyperactivity and attentional problems	N/A
Bochukova et al^Citation12	Large	~1,7 Mb (28,3–30,1)	+
	Large	~1,7 Mb (28,4–30,1)	+
Hanson et al^Citation8	Large (patient 17)	~1,7 Mb (28,4–30,1)
Sampson et al^Citation7	Large (patient 2)	~1,7 Mb (28,4–30,1)	+	+	Autistic features	Eye abnormalities, seizures, renal dysfunction
	Distal only (patient 1)	~217 kb (28,7–29,0)				Agenesis left kidney, aganglionic bowel segment
Bachmann-Gagescu et al^Citation11	Large (patient 4)	~500 kb (28,4–28,9)	+	+
	Distal only (patient 5)	~200 kb (28,7–28,9)	+		Autistic features	Obesity
Unpublished (cf., Firth et al^Citation19)	Large	~7,81 Mb (21,4–29,2)	+	+
	Distal only (DECIPHER 249980)	~220 kb (28,8–29,0)	+	+	Hyperactivity	Seizures
	Distal only (DECIPHER 251199)	~200 kb (28,8–29,0)	+			Obesity
	Distal only (DECIPHER 253362)	~200 kb (28,8–29,0)
	Distal only (DECIPHER 253364)	~200 kb (28,8–29,0)
Present patient	Large distal	~970 kb (28,5–29,4)			Ideas of reference, social withdrawal, high average intelligence (IQ =112)

Note: Data from Barge-Schaapveld et al.⁵

Abbreviations: IQ, intelligence quotient; N/A, not applicable; cf., conferatur.

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