Case Reports in Genetics

Case Report

Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

Table 1

Clinical features of individuals with interstitial 7q33-q35 deletions.
Patient demographicsPresent caseMalmgren et al. [3]
Nielsen et al. [10]
Stallard and Juberg [2]Verma et al. [11]Petrin et al. [8]Rossi et al. [4]Fagan et al. [12]
Patient IV: 6III: 1III: 3III: 11III: 10III: 8     
Deletion regionq33-q34q33-q34q33-q34q33-q34q32-q34q32-q34q32-q34q31-q34q33-q35q33-q35q33-q35q35
Gender/ageF/15M/15M/40F/25F/6M/6F/13.5F/1F/4M/22F/adultF/11
Neurological/development            
 Intellectual disability+++++++NA+−++
 Developmental delay++++++ +++++
 Speech delay/disorder++     NA++++
 Abnormal brain MRI++       +  
 Mood shifts+         + 
 Self-mutilating behaviors+           
 Seizures+     + + + 
 Sleep difficulty+         + 
  Diparesis/truncal ataxia          + 
Craniofacial             
 Microcephaly       ++   
 Hypertelorism+++++++   + 
 Epicanthal folds +     +   +
 Broad/depressed nasal bridge  +  +++  ++ 
 Bulbous nose++++++++  ++
 Large mouth+++++++   + 
 Long philtrum++++++    + 
 Thin upper lip++++++ +    
 Micrognathia +         +
 Low set ears/ear ++ ++ +   +
 Preauricular ear pits+         + 
Growth             
 Slow growth/short stature −++−+++−   
 Truncal obesity+         + 
 Hemihypertrophy+           
 Hand and feet differences +       ++ 
Other             
 Ophthalmologic abnormality+     + −  +
 Hearing deficit ++      +−  
 Repeated infections+++ +  ++   
 Primary amenorrhea−N/AN/A  N/A   N/A+ 
 Frequent menses+N/AN/A  N/A   N/A− 
 Umbilical hernia++