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Table 1 Clinical and cytogenetic data in patients with “pure” 15q26 deletion CHD

From: 15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

Clinical findings

Our case

Dateki 2011 [11]

Poot 2007 [10]

Tönnies 2001 [12]

Nakamua 2011 [4]

Slavotinek 2006 [6]

Hengstschlagr 2004 [13]

Bhakta 2005 [14]

Rump 2008 [15]

Choi 2011 [16]

Chui 2015 [17]

Biggio 2004 [18]

Okubo 2003 [19]

O’Riordan 2016 (38)

Iopez 2006 (39)

Patient 1

Patient 2

Age

4y

13y 9 m

8y 6 m

19 m

33 weeks

newoborn

newoborn

newborn

newborn

6 m

2 y

3 y

newborn

10 y

newborn

fetus/19 wg

Gender

F

F

F

F

F

F

F

F

F

M

M

F

F

F

M

F

Position of 15q26 deletion

15q26.1qter

15q26.2qter

15q26.2qter

15q26.1

15q26.2

15q26.2

15q26.2

15q26.1qter

15q26.1qter

15q26.2qter

15q26.2qter

15q26.2qter

15q26.1qter

15q26.1qter

15q26.2qter

15q26.1qter

Deletion size

9,15 Mb

5 Mb

6,87 Mb

NA

5,78 Mb

NA

NA

NA

NA

5.8 Mb

8.58 Mb

NA

NA

NA

6.554 Mb

NA

Origin

De novo

De novo

De novo

De novo

NA

De novo

NA

De novo

NA

De novo

NA

NA

NA

De novo

De novo

De novo

IUGR

+

+

+

+

NA

NA

+

+

+

NA

+

NA

+

Microcephaly

+

+

+

+

+

+

+

+

+

+

NA

+

+

NA

Failure to thrive

+

+

+

+

+

+

+

+

+

+

+

+

NA

+

+

NA

Pschycomotor delay

+

NA

+

+

+

NA

NA

NA

+

+

NA

+

NA

+

+

NA

Intellectual disability

+

+

NA

NA

NA

NA

NA

NA

+

NA

NA

NA

NA

NA

NA

Facial dysmorphic features

+

+

+

+

+

+

+

+

+

+

+

+

+

NA

Broad nasal bridge

+

+

NA

NA

+

NA

+

+

+

NA

NA

Micrognathia

+

+

+

+

NA

+

NA

NA

+

+

NA

NA

Ear anomaly

+

+

+

+

+

+

+

+

NA

Eye anomaly

+

+

NA

NA

NA

NA

NA

+

+

+

NA

+

NA

NA

Cardiac defect

+

+

+

+

+

+

+

+

+

+

+

 

+

+

+

+

Hypoplastic heart

+

+

Enlarged heart

+

Cardiac shunt

+

+

Aortic arch anomaly

+

+

+

+

+

+

+

+

Ventricular septal defect

+

+

+

+

+

+

+

+

Patent ductus arteriosus

+

+

+

Atrial septal defect

+

+

+

+

+

+

+

+

Valvular defect

+

+

+

+

+

Lung hypoplasia

+

+

+

+

Diaphragmatic hernia

+

+

+

+

+

Kidney anomalies

+

+

+

+

+

+

+

Skeletal anomalies

+

+

+

+

+

+

+

+

+

+

+

+

+

+

Clinodactyly

+

+

+

+

+

+

+

Foot deformity

+

+

+

+

+

+