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Table 1 Summary of clinical features of terminal 10q26.12 deletion in patients identified from DECIPHER database and Pubmed

From: Terminal 10q26.12 deletion is associated with neonatal asymmetric crying facies syndrome: a case report and literature review

DECIPHER ID and reported cases

Sex/age

Deletion areas

Deletion size

(Mb)

Inheritance

Phenotypes

1

2

3

4

5

6

7

Current case

F/ < 1 m

10:122119070 –135403394

13.28

De novo

 + 

 + 

 + 

 + 

 + 

 + 

274013

M/11 y

10:121355765–135439229

14.08

De novo

 + 

 + 

 + 

330947

F/9 y

10:121468628–135426384

13.96

NA

 + 

 + 

 + 

398749

M/ < 12 m

10:122736421–135430043

12.69

uncertain

 + 

 + 

 + 

 + 

324337

M/2y

10:122862637–135434178

13.57

De novo

 + 

 + 

 + 

 + 

 + 

285689

M/NA

10:122761628–135372492

12.61

De novo

 + 

 + 

 + 

 + 

304635

F/37 y

10:123241651–135404523

12.16

NA

 + 

385190

F/12 m

10:123393359–135434149

12.04

De novo

 + 

285837

F/28y

10:124347712–135372492

11.02

De novo

 + 

 + 

 + 

283660

F/ < 12 m

10:124500982–135404471

10.9

Maternally inherited

 + 

 + 

285822

M/4y

10:124785795–135372492

10.59

De novo

 + 

 + 

300399

F/12 m

10:125121038–135404523

10.28

NA

 + 

 + 

Chang 2013

F/10.5 y

q26.12–q26.3

NA

De novo

 + 

 + 

 + 

 + 

 + 

Vera-Carbonell 2015

F/17 y

10:122014670–135404523

13.5 Mb

De novo

NA

 + 

Faria 2016

F/1 m

10:122095511–135203489

13.1 Mb

De novo

 + 

 + 

 + 

Lin 2016

F/5 y

10:122387570–135427143

13.04 Mb

De novo

 + 

 + 

 + 

Gunnarsson 2009

F/Newborn

10:122736794–135259604

12.5

De novo

 + 

 + 

 + 

 + 

Miller 2009

M/4.5 y

10:122970216–135434303

12.4 Mb

De novo

 + 

 + 

 + 

 + 

  1. F female, M male, NA not available, m month, y year
  2. Phenotypes:
  3. 1-Craniofacial dysmorphisms
  4. 2-Microcephaly
  5. 3-Ophthalmic defects
  6. 4-Abnormal ears and/or hearing impairment
  7. 5-Congenital heart defects
  8. 6-Cerebral aplasia/hypoplasia
  9. 7-Global developmental delay