Table 1 Individual clinical features of seven patients with heterozygous deletions/duplications at 12p11.21-12p11.23 along with their demarcating genomic coordinates (hg38).

Subject ID	Patient 1: DGAP032	Patient 2: 50943	Patient 3: 31606	Patient 4: 022821	Patient 5: 295472	Patient 6: 370033	Patient 7: 293962
Genomic coordinates [hg38]	27,003,224–31,687,824	27,134,884–27,634,952	27,157,806–27,907,534	28,047,313–29,990,575	27,400,730–27,615,518	28,414,984–30,598,365	28,701,107–29,353,047
Cytogenetic band(s)	12p11.21-p11.23	12p11.23	12p11.22- p11.23	12p11.22	12p11.23	12p11.21-p11.22	12p11.22
Type of CNV	Deletion	Duplication	Duplication	Duplication	Duplication	Deletion	Duplication
CNV size	4.7 Mb	500 Kb	750 Kb	1.94 Mb	215 Kb	2.18 Mb	652 Kb
Inheritance	De novo with 46, XY, t(7;12)(q21;q23)dn	De novo	Unknown	De novo	Paternal	Paternal father & two paternal uncles have similar learning disabilities	Paternal father with mild learning problems with same syndactyly and tapering fingers
Method of detection	aCGH	aCGH	aCGH	aCGH	aCGH	aCGH	aCGH
Age	44 years	36 years	10 years	4 years	12 years 5 months	11 years	48 years
Sex	M	M	F	M	M	F	M
Ethnicity	Chippewa/French	Dutch	American	Argentinian	French	Portuguese	British
Developmental delay	_	+	+	+	+	+	+
Intellectual disability	+	+	N/A	+	+	+	+
Autism	_	+	_	+	+	_	_
Kallman syndrome	+	_	_	_	_	_	_
Cranial anomalies	+ sharp foramen	_	_	+ microcephaly	+ mild microcephaly	_	+ mild microcephaly
Facial dysmorphism	_	+	_	_	+	_	+
Learning disability	+	+	N/A	+	+	+	+
Epilepsy/seizures/spasms	_	_	_	_	N/A	_	_
Language/speech delay	N/A	+	+	+	+	+	+
Hearing loss	_	_	_	+	_	_	_
Hand/finger/feet/toe anomalies	+	_	_	+	+	+	+
Skeletal anomalies	+	_	_	+	_	_	_
Behavioral problems	_	+	_	_	+	+	_
Anxiety disorder	_	_	_	_	+	_	_
Hypotonia	_	_	N/A	+	_	_	_
Impaired motor skills	_	_	N/A	+	+	_	_
Dyslexia	_	+	N/A	+	_	_	+
ADHD	_	_	+	_	_	+	_

‘N/A’ denotes not available, while ‘-’ represents absence of the corresponding phenotype.
ADHD attention deficit hyperactivity disorder.

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