12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments

Leyser, Marcio; Dias, Bruno Leonardo; Coelho, Ana Luiza; Vasconcelos, Marcio; Nascimento, Osvaldo J. M.

doi:10.1186/s13039-016-0278-0

Molecular Cytogenetics

Table 1 Behavioral and clinical phenotypes in the 12p interstitial and distal deletion spectrum syndromes

From: 12p deletion spectrum syndrome: a new case report reinforces the evidence regarding the potential relationship to autism spectrum disorder and related developmental impairments

Cases	Deleted segment	ASD	ID	Other	Dysmorphic features
Mayeda et al. 1974 [38]	12.13-pter	NA	+	-	+
Magnelli/Therman 1975 [39]	12p12-pter	NA	+	-	+
Teconi et al. 1975 [40]	12p	NA	-	+PMD	+
Malpuech et al. 1975 [52]	12p11-p12.2	NA	-	+PMD	+
Orye & Craen 1975 (1) [41]	2p12	NA	+	+PMD	+
Orye & Craen 1975 (2) [41]	2p12	NA	-	+PMD	+
Magenis et al. 1981 [34]	12p12.3	NA	+	+PMD	+
B.-Dartigalongue et al. 1985 [42]	12p11-p12.1	NA	+	+PMD	+
Kivlin et al. 1985 [43]	12p12.2-pter	NA	-	-	+
Romain et al. 1987 [53]	12p13.1-13.3	NA	+	-	+
Baroncini et al. 1990 [44]	12p13-pter	NA	-	-	+
Fryns et al. 1990 [45]	12p11.2-12p13.1	NA	-	+PMD	+
Nagai et al. 1995 [54]	12p11.21-p12.2	NA	+	-	+
Bahring et al. 1997 [55]	12p11.21-p12.2	NA	-	-	+
Baker et al. 2002 (1) [46]	12p	NA	+	+NS	+
Baker et al. 2002 (2) [46]	12p	NA	-	+PMD/LD	NA
Glaser et al. 2003 [14]	12p12.1-p12.3	NA	-	+PMD	+
Stumm et al. 2007 (1) [47]	12p11.21-p13.2	NA	-	-	+
Stumm et al. 2007 (2) [47]	12p11.21-p13.2	NA	-	-	+
Velinov et al. 2008 [48]	12p13.3-pter	NA	+	+NS	-
Lu et al. 2009 [56]	12p11.21-12p12.2	NA	_	+PMD	+
Rooryck et al. 2009 [49]	12p13.33	NA	+	NA	+
McDonald et al. 2010 [20]	12p	NA	+	+	+
Abdelmoity et al. 2011 (1) [50]	12p13.33	-	-	+ADHD/ID/SE	+
Abdelmoity et al. 2011 (2) [50]	12p13.33	-	-	+ADHD/ID/SE	-
Abdelmoity et al. 2011 (3) [50]	12p13.33	-	-	+PMD/LD	NA
Talkowski et al. 2011 [58]	12p13.1	-	+	+Seizures	NA
Soysal et al. 2011 [12]	12p11.1-12.1	NA	+	-	+
De Ligt et al. 2012 [57]	12p13.1	-	+	+Language Delay	NA
Dimassi et al. 2012 (1) [35]	12p13.1	-	+	+LD/PMD/Seizures	+
Dimassi et al. 2012 (2) [35]	12p13.1	-	+	+Language Delay	+
Dimassi et al. 2012 (3) [35]	12p13.1	+	+	+PMD/Language Delay	+
Thevenon et al. 2012 (1) [36]	12p13.33	-	-	+PMD/Language Delay	+
Thevenon et al. 2012 (2) [36]	12p13.33	-	-	+Language Delay	NA
Thevenon et al. 2012 (3) [36]	12p13.33	+	+	+Language Delay/ADHD/LD	+
Thevenon et al. 2012 (4) [36]	12p13.33	-	-	+Language Delay/ADHD	-
Thevenon et al. 2012 (5) [36]	12p13.33	-	+	+ADHD/LD	-
Thevenon et al. 2012 (6) [36]	12p13.33	+	+	+Language Delay/ADHD/LD	+
Thevenon et al. 2012 (7) [36]	12p13.33	-	+	+PMD/Language Delay/ADHD/Anxiety	+
Thevenon et al. 2012 (8) [36]	12p13.33	-	+	+PMD/Language Delay/ADHD/LD/Anxiety	+
Thevenon et al. 2012 (9) [36]	12p13.33	-	+	+Language Delay/LD	+
Vargas et al. 2012 [11]	12p13.33	NA	ID	+PSY	+
Hoppe et al. 2014 [13]	12.2p11.22	NA	+	+PMD	+
Present Patient	12p13.2	+	+	+LD/PMD	-

+Feature present; − Feature negative; LD learning disability, ADHD attention deficit hyperactivity disorder, ADD attention deficit disorder, ID intellectual disability, PMD psychomotor delay, Psychosis PSY, SE staring episodes, NS non specific, NA not available
Ref. [11, 13, 20, 34–36, 38–40, 42–49, 51–58]

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