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Table 1 Phenotypes associated with reported interstitial deletions involving 6p25.1p24.3

From: Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

  Present case Mirza et al. case 5 [21] Mirza et al. case 6 [21] Davies et al. [7] Kuipers et al. case 2 [14]
Deleted region 4,745,144-10,384,769 2,090,000-8,330,000* 4,050,000-9,910,000* 6,100,000-10,450,000* 5,968,242-8,882,919
Size (Mb) 5.64 5.26 5.86 4.35 2.91
Age at first examination 2y2m 6 m 1y1m 1y11m 4y
Sex Female Female Male Male Male
Growth delay Mild     
Motor development delay   Moderate    Mild
Speech delay Mild     
Hypotonia   +    +
Cardiac anomalies PFO   PDA/ASD ASD/VSD  
Conductive hearing loss +     
Craniofacial dysmorphism      
Prominent forehead      +
Low-set ears   +    +
Posteriorly rotated ears   +    
Synophrys +     
Hypertelorism + + + +  
Short palpebral fissures     +  
Blue sclera   + +   
Microphthalmia with corneal clouding     +  
Broad nasal bridge + +    +
Flat nose    + +  
Nasal tip    Bulbous   Full
Short philtrum +     +
Highly arched palate   +    
Bilateral cleft lip    +   
Downturned corners of the mouth +     
Micrognathia/retrognathia     + +
Widely spaced and late erupting teeth +     
Extremities      
Long fingers   +    +
Clinodactyly +     +
Overlapping toes +   +   
Mild joint hypermobility   +    +
Talipes     valgus  
Short neck   +    
Pectus excavatum + + + +  
Hemangioma +
+
+    +
Umbilical hernia + + +   
Hair abnormalities      +
  1. Note: + feature present, *the breakpoints are estimated based on FISH data [7, 21]; PFO patent foramen ovale, PDA patent ductus arteriosis, ASD atrial septal defect, VSD ventricular septal defect