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Table 1 Review of main phenotypic characteristics of patients with deletions overlapping 6q24.2-q25.2

From: A new case of de novo 6q24.2-q25.2 deletion on paternal chromosome 6 with growth hormone deficiency: a twelve-year follow-up and literature review

Clinical findings

McLeod [2]

Kumar [13]

Sukumar [6]

Sukumar [6]

Sukumar [6]

Meng [4]

Narahara [3]

Bisgaard [19]

Tanteles [20]

Caselli [21]

Nowaczyk [14]

Nowaczyk [14]

Our Case

Total

6q breakpoints

q23-q25

q23.3-24.2

q24.2-q25.1

q25.1-q25.3

q25.1-q26

q24.3-ter

q25-1-q25.3

q25.1-25.3

q24.3-25.2

q24.3-q25.1

q25.1-q25.3

q25.1-q25.3

q24.2-q25.2

13

Parent of origin

NA

father

NA

NA

NA

NA

NA

NA

NA

NA

father

father

father

4/4

Sex (M:F)

M

F

M

M

M

M

M

F

M

F

M

F

M

9/4

Age (yrs.months)

<0.1

3.0

1.0

17

<0.1

0.4

0.7

6.6

2.6

8.2

1.3

1.4

1.-1

-

IUGR/low birth weight

+

+

+

-

-

+

+

-

-

-

+

+

+

8/13

Postnatal growth failure

+

+

+

-

+

+

+

+

-

+

+

+

+

11/13

Microcephaly

+

-

+

+

+

+

+

NA

-

-

-

-

-

7/12

Prominent forehead

-

-

+

+

-

-

-

+

+

-

+

+

+

7/12

Epicanthic folds

+

+/−

+

+

-

+

+

+

-

-

-

-

+

8/13

Downslanting palpebral fissures

-

-

-

+

-

+

-

-

-

+/−

-

-

-

4/13

Upslanting palpebral fissures

-

-

-

-

-

-

+

+

-

-

+

+

+

5/13

Retinal, macular abnormalities

-

ND

-

-

+

ND

ND

ND

-

ND

-

-

-

1/8

Large ears

-

NA

-

+

-

+

NA

-

-

-

-

-

+

3/11

Malformed ears

-

NA

-

+

+

+

+

+

-

+

+

+

-

8/12

Broad nasal bridge

-

+

+

-

-

+

+

-

+

-

-

-

+

6/13

Micrognathia

+

-

-

+

-

+

+

-

-

-

-

-

-

4/13

Abnormal philtrum

-

-

-

-

-

-

-

-

+

+/−

-

-

-

2/13

Microstomia

+

-

NA

NA

NA

NA

+

-

+

-

-

-

-

3/9

Thin lips

-

+

+

-

-

NA

NA

+

-

+

+

+

-

6/11

Congenital heart defect

+°°

-

+§§

-

-

+d

-

+’

-

+§

+&

+

8/13

Respiratory distress

-

-

+

-

+

+

NA

-

-

+

-

+

-

5/12

Feeding problems

-

+

-

+

-

-

.

-

+

+

-

-

+

5/12

Cryptorchidism

-

 

+

-

+

+

-

 

+

   

-

4/8

Genital hypoplasia

-

NA

NA

NA

-

NA

-

-

NA

NA

-

-

-

0/7

Short neck

+

+

-

-

-

+

+

NA

-

-

-

-

-

4/12

Chest and trunk asymmetry

-

NA

-

+

-

+

-

NA

-

NA

-

+

-

3/10

Spine abnormalities

+

ND

-

-

-

ND

ND

ND

-

ND

-

-

-

1/8

Foot abnormalities

-

NA

-

+

+

+

-

-

-

+

NA

NA

+

5/10

Abnormal hands, fingers

+

NA

-

+

-

+

+

-

-

+

+

NA

+

7/11

Joint laxity

-

NA

-

-

-

NA

NA

NA

+

NA

NA

NA

+

2/6

Hypotonia

-

-

+

-

-

+

+

NA

+

NA

NA

+

+

6/10

Skin abnormalities

+

NA

-

-

-

NA

NA

NA

+

NA

NA

NA

-

2/6

Seizures

-

-

-

+

-

+

.

-

-

-

-

-

+

3/13

MRI/TC abnormalities

ND

ND

ND

-

+a

+b

ND

ND

ND

-

-

-

+c

3/7

Developmental delay

NA

-

+

+

NA

+

+

+

-

+

+

+

+

9/11

Other

+1, 2

    

+1

      

+3

 
  1. NA not available, ND Not determinable
  2. aAgenesis of corpus callosum and temporal and occipital enlargement; bagenesis of corpus callosum; cpituitary hypoplasia with a cyst in the pars intermedia; dventricular septal defect and patent ductus arteriosus; ‘ventricular septal defect; °dysplastic tricuspid and pulmonary valves, premature ventricular contractions; °°systolic murmur without echocardiographic evaluation; +§§tricuspid regurgitation; +1Imperforate anus; +2sacrum lipoma; +3hypoplastic left colon and inguinal hernia
  3. +& secundum atrial septal defect
  4. +§ atrial septal defect