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Table 1 Summary of clinical features and cytogenetic characteristics of the reported patients with 19p13 deletion overlapping with our patient

From: A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay

Patient Present patient Bonaglia et al. [4] Patient 3 Auvin et al. [2] Lysy et al. [1] Clinical score
Gender Female Male Male Female  
Chrom.region 19p13.2-p13.12 19p13.13-p13.12 19p13.13 19p13.2-p13.13  
Deletion size Mb 1.45 Mb 1.5 Mb 664 Kb 3 Mb
Position (hg18) 12.55-14.00 12.87-14.15 12.61-13.28 10.25-13.18
At birth      
Weight < 3rd < 3rd Normal -2SD
Length < 3rd < 3rd Normal -2SD
OFC 50th 10-15th Normal -2SD
At last evaluation      
Age 23/12 years 7 years 2 years 38/12 years
Weight >95 th 50th +2SD -2SD
Length 95 th 75th +3SD -2SD
OFC 95 th 50th +2,5SD -2SD
Clinical features      
Hypotonia Severe + + + 4/4
Psychomotor delay + Moderate- severe + + 4/4
Language delay + + + + 4/4
Seizure/EEG anomalies + + + + 4/4
Hearing loss - Bilateral conductive - Bilateral threshold 60 dB 2/4
Skeletal Advanced bone age Scoliosis Advanced bone age Craniocynostosis with left spleno-orbital dysplasia 4/4
Extremities Clinodactyly V ClinodactylyV right hand, left I and II toes overlapping bracydactyly - - 2/4
Facial features      
Brachycephaly + + - - 2/4
Philtrum long long - - 2/4
Nose Anteverted nares Anteverted nares Flat - 3/4
Ocular anomalies Strabismus - - strabismus 2/4