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Table 1 Clinical features of the patients with overlapping 4q13.3 microdeletion

From: A case report of familial 4q13.3 microdeletion in three individuals with syndromic intellectual disability

 

Decipher 271532

Decipher 4688

Decipher 355915

Quintela I et al., 2015 Patient 2 [8]

This report

Proximal breakpoint (hg19)

72,006,446

67,129,189

73,303,180

68,207,272

72,647,749

Distal breakpoint (hg19)

76,140,123

74,425,009

74,459,331

75,021,494

74,208,199

Cytoband

4q13.1q13.3

4q13.1q13.3

4q13.3

4q13.1q13.3

4q13.3

Size of deletion, Mb

4.13

7.30

1.16

6.81

1.56

Inheritance

De novo

De novo

NA

De novo

Maternal

Maternal

NA

Gender

F

M

F

F

F

F

F

Age

NA

NA

NA

11 yr.

19 yr.

14 yr.

43 yr.

Neurologic

ID

ID, delayed speech and language development

ID, autism

Mild ID

Mild ID

Mild ID,

cavum septi pellucidi

Mild ID

Head and face

NA

NA

NA

Triangular face, broad forehead,

pointed chin with chin dimple

Microcephaly, coarse face

Coarse face

Coarse face

Eyes

NA

Strabismus

NA

Slightly upslanted palpebral fissures

Upslanted palpebral fissures

Upslanted palpebral fissures, hypermetropic astigmatism, strabismus

Hypotelorism

Ears

NA

NA

NA

N

Mild neurosensory hearing impairment

Mild neurosensory hearing impairment

Neurosensory hearing impairment

Nose, mouth

NA

NA

NA

Broad nasal tip

Micrognathia

Micrognathia

NA

Skeletal

NA

Short stature, abnormality of the lower limb, clinodactyly of the 5th finger

NA

Short stature

Short stature, short neck, thoracolumbar scoliosis

Short stature short neck, thoracolumbar scoliosis, malformed vertebrae, clinodactyly of toes

Short stature, spine deformation, osteochondrosis, stenosis of the spinal canal

Cardio-vascular

NA

NA

NA

N

Abnormality of the aortic valve, atrial septal defect with atrial septal aneurysm

Abnormality of the aortic valve

Atrial septal defect, primary arterial hypertension, hypertensive heart disease

Endocrine

NA

NA

NA

NA

Delayed puberty

Hypopituitarism, delayed puberty

NA

Genito-urinary

NA

NA

NA

NA

NA

Hypoplasia of the right kidney

NA

  1. Abbreviations: F female, M male, yr. years, ID Intellectual disability, N Normal, NA Not Available