A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review

BMC Medical Genetics

Table 2 Observed clinical features in atypical deletions of the LCR intervals in 22q11.2.

LCR interval	Rauch 2005 [19]		Ben-Shachar 2008 [23]	García-Miñaur 2002 [18]	Kurahashi 1996 [70]	D'Angelo 2007 [21]	Patient 1
	- ctCHD	- ctCHD
A-B	- typical VCFS	- typical VCFS
		- Atypical CHD		- ctCHD
B-C		- Mild dysmorphism		- Mild facial dysmorphism
		- DD		- Father normal
		- Learning disabilities			- CTAFS: TOF, PA	- Mild facial features	- Atypical CHD
C-D					- Facial dysmorphism	- Neurodevelopmental, behavioural and psychiatric spectrum disorder	- Atypical facial features
						- Mother with depressive disorder
			- Prematurity
	- Mild DD	- Mild DD
			- Prenatal and postnatal GR
	- Choanal atresia
			- Learning difficulties and/or DD
D-E	- Atypical CHD		- Specific skeletal abnormalities
			- Characteristic facial dysmorphism
			- Higher risk for TA
E-F

CTAFS: conotruncal anomaly face syndrome; ctCHD: conotruncal congenital heart defect; DD: developmental delay; GR: growth retardation; PA: pulmonary atresia; TA: truncus arteriosus; TOF: tetralogy of Fallot; VCFS: Velocardiofacial syndrome.

ISSN: 1471-2350