Interstitial deletion within 7q31.1q31.3 in a woman with mild intellectual disability and schizophrenia

Figures & data

Figure 1 The present patient, a 29-year-old female.

Table 1 Summary of the patients with interstitial deletions in the 7q31 region

	Katz et al^Citation15	Del Refugio Rivera-Vega et al^Citation14	Zilina et al^Citation13 (2)		Present case	Lennon et al^Citation10	Zilina et al^Citation13 (1)		Palka et al^Citation11	Rice et al^Citation12		Zhao et al^Citation16	Tyson et al^Citation9	Okamoto et al^Citation2
	2016	2015	2012			2007	2011		2012	2012		2016	2004	2011
Age	3y7m	1y9m	6y	28y	27y	7y	3y	28y	10y	4y10m	24y	4y	14y	3y
Gender	M	F	F	F (Mo)	F		F	F (Mo)	F	M	F (Mo)	F	M	M
Growth delay	+	+	−		−	−	+	−	−	−	−	−	+	+
Developmental delay	+	Mild	+	+	Mild	Mod	Mod	−	Mild	+	−	+	−	−
ASD	NA	NA	NA		−	NA	NA	NA	NA	NA	NA	NA	NA	+
Psychiatric symptoms	NA	NA	NA	Behavior abnormality	+	NA	NA	NA	NA	NA	NA	NA	NA	−
Distinctive features	+	+	+		+	+	+	+	−	+	−	+	+	+
Deletion size (Mb)	12.0	23.0	6.0		8.0	9.0	8.0		14.0 Mosaicism	2.0		3.0	5.0	5.0
Chromosomal position
Start	q22.1	q22.3	q31.1		q31.1	q31.1	q31.1		q31.1	q31.1		q31.2	q31.2	q31.31
End	q31.1	q32.1	q31.2		q31.31	q31.31	q31.31		q31.3	q31.2		q31.31	q31.32	q31.33
Deletion region (Mb)
Start	99	107	109		112	112	112		113	113		116	117	120
End	111	130	115		120	121	120		127	115		119	122	125
Inheritance	NT	DN	Inherited		NT	Inherited from parental-balanced insertion	Inherited		NA	Inherited		DN	NT	DN
FOXP2 involvement	−	+	+		+	+	+		+	+		−	−	−

Abbreviations: y, years; m, months; M, male; F, female; Mo, mother; Mod, moderate; ASD, autism spectrum disorder; NA, not available; NT, not tested; DN, de novo; +, positive; −, negative; Mild, mild delay; Mod, moderate delay.

Figure 2 Genome map around 7q31 region depicting reported deletion regions.

Note: Deletion regions in previously reported patients and those in the present patient are depicted (blue bars). Genomic positions refer to build19.

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