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Table 1 Comparison with other reported cases with similar genomic imbalances

From: Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation

Phenotype

Patient 1

Patient 2

Strehle et al. [2]

Strehle et al. [2]

Xu et al. [8]

Thapa et al. [9]

Study description

4q33q35.2 deletion; 10p15.3p15.1 duplication

4q33q35.2 duplication; 10p15.3p15.1 deletion

Case series of 3 patients with 4q-syndrome

Review of 20 patients with deletions ranging from 160 kb to 25.7 Mb; two individuals with an additional copy number variant

1.6 Mb deletion of 4q32.3q34.3

Distal 4q duplication

No. of patients in study

  

3

20

1

2

Karyotype/coordinates

arr[hg19] 4q33q35.2(171,509,635-190,957,473) × 1,10p15.3p15.1(100,026-5,331,662) × 3

46,XX,der(4)t(4;10)(q33p15.1)

46,XY,der(10)t(4;10)(q33;p15.1)

Patient 1: 46,XX,del(4)(q33).ish del(4)(q33)(RP11-140M23-,DJ963K6-)dn

Patient 2: 46,XY.arr cgh 4q31.3q35.2(153,114,490-191,034,023) × 1 dn and 46,XY.arr cgh 6p25.3(103,562-1,559,010) × 3 dn build not indicated

Patient 3: 46,XX.arr cgh 4q22.1q23(93,972,073-101,811,206) × 1 dn

Mixed

arr[hg18] 4q32.3q34.3(167,236,114-178,816,031) × 1

Mixed

Developmental delay

1

1

1

18

1

2

Hypotonia

  

1

10

  

Intellectual disabilitya

1

1

0b

10b

0b

2

Craniofacial findings

 Cleft lip/palate

  

2

6

  

 Macrocephaly

   

4

  

 Microcephaly

  

1

4

  

 Hypotelorism

1

  

1

  

 Hypertelorism

  

1

4

 

1

 Ear anomalies

 

1

2

11

1

 

 Frontal bossing/high forehead/prominent forehead

  

1

4

 

2

 Broad nasal bridge

 

1

2

3

 

1

 Mouth/lip dysmorphology

1

 

2

4

  

 Micrognathia/retrognathia/chin dysmorphology

1

1

3

8

 

1

 Dental findings

1

  

7

  

 High arched palate 1

  

1

  

3

 Philtrum abnormality

   

6

  

 Nose dysmorphism

   

12

  

Skeletal findings

 Growth deficiency/short stature

 

1

1

10

1

 

 Scoliosis

1

1

 

2

  

 Brachydactyly/small hands and/or feet 1

  

4

 

1

 

 Clinodactyly/overlapping/malpositioned fingers/toes

 

1

2

11

1

 

Skin findings

 Nevi, hyperpigmentation, ichthyosis, etc

1

  

5

  

 Syndactyly, soft tissue of fingers/toes

1

1

 

1

  

Cardiovascular findings

1

 

2

9

1

 

Immunological symptoms

 Asthma

   

3

  

 Recurrent infections

   

2

  

Neurological findings

 Brain MRI/CT findingsd

  

1

4

  

 Seizures

   

5

  

Genitourinary

1

1

1

9

1

1

Endocrine

1

  

3

  

Ears, nose, throat

 Hearing impairment

   

3

  

Phenotype

DeScipio et al. [11]c

Lindstrand et al. [10]

Kohannim et al. [21]

Cingoz et al. [3]

Shah et al. [23]

Study description

Review of 19 unrelated individuals with submicroscopic 10p15.3 deletions. Clinical history available for 12 out of 19 patients, with deletions ranging in size from 154 to 3706 kb

4 Patients with partial overlapping 10p deletions

Trisomy 10p11.22p15.3 and monosomy 7p22.3

4q35 deletion and 10p15 duplication in two family members

Case report of 4q34.3q35.2 11.5 Mb deletion and 10p15.3p12.1 29.3 Mb duplication

No. of patients in study

19

4

1

2

1

Karyotype/coordinates

Patient 1: arr[hg18] 4q32.1q35.2(157,561,683-191,133,858) × 3

Patient 2: arr[hg18] 4q32.2q34.3(163,694,953-179,222,949) × 3

Patient 1: 46,XY,t(1;10;5)(q32;p12;q31) Chr1: 195,145,260-195,382,317 Chr10: 4,592,014-4,883,438 Chr10: 19,135,572-19,639,499 Chr10: 20,747,991-20,909,373 Chr5: 124,638,176-125,261,854

Patient 2: Chr10: 32,427,01-34,62,269

Patient 3: Chr10: 11,974,466-12,211,025

Patient 4: 45,XX,der(10;15)(10qter→10p15::15p11)dn hg18

46,XY,der(7)t(7;10)(p22.3;p11.22).arr 7p22.3(0-749,854) × 1,10 p15.3p11.22 (0-33,408,955) × 3,10p11.22(33,039,622-33,408,955)x4dn

[ish cgh del(4)(q35qter)] and [ish cgh dup(10)(p15ter)]

46,XY,der(4)t(4;10)(q34.3;p12.1)dn.arr [hg19] 4q34.3q35.2(179,589,516-191,154,276) × 1,10p15.3p12.1(0-29,304,999) × 3

Developmental delay

17

4

1

 

1

Hypotonia

9

2

  

1

Intellectual disabilitya

7

4

0b

2

1

Craniofacial findings

 Cleft lip/palate

 

1

   

 Macrocephaly

4

    

 Microcephaly

1

1

   

 Hypotelorism

   

2

 

 Hypertelorism

2

2

1

  

 Ear anomalies

4

4

1

2

 

 Frontal bossing/high forehead/prominent forehead

5

1

1

  

 Broad nasal bridge

2

1

   

 Mouth/lip dysmorphology

6

1

   

 Micrognathia/retrognathia/chin dysmorphology

2

1

1

 

1

 Dental findings

1

   

1

 High arched palate 1

1

1

   

 Philtrum abnormality

2

1

   

 Nose dysmorphism

2

2

 

1

 

Skeletal findings

 Growth deficiency/short stature

6

3

   

 Scoliosis

1

1

  

1

 Brachydactyly/small hands and/or feet 1

     

 Clinodactyly/overlapping/malpositioned fingers/toes

3

1

   

Skin findings

 Nevi, hyperpigmentation, ichthyosis, etc

1

    

 Syndactyly, soft tissue of fingers/toes

1

    

Cardiovascular findings

3

  

1

1

Immunological symptoms

 Asthma

1

 

1

2

 

 Recurrent infections

2

2

1

1

 

Neurological findings

 Brain MRI/CT findingsd

4

3

   

 Seizures

3

2

   

Genitourinary

4

3

 

1

 

Endocrine

     

Ears, nose, throat

 Hearing impairment

 

3

   
  1. Empty cells = not reported
  2. aIncluding learning disability but not ‘mild’ learning disability
  3. bIncludes children < 5 years old and/or termination
  4. cOnly 12 out of 19 patients had detailed phenotypic information
  5. dIncluding findings such as hydrocephalus, possible absence of corpus callosum
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BMC Medical Genomics

ISSN: 1755-8794

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