Case Reports in Genetics

Case Report

Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies

Table 1

Comparison of the patient’s phenotypic characteristics versus published accounts of dup 20p/trisomy 20p.
Phenotypic characteristicsOur patientGrammatico et al. [8]Bartolini et al. [9]Trachoo et al. [12]Chaabouni et al. [13]
Right congenital ptosis+−+−−
Epicanthic folds+−+++
Upslanting palpebral fissures+−++−
Strabismus+++−−
Esotropia+−−−−
Round face+++++
Philtrum abnormalities+++−+
Coarse hair−++−+
Short neck+−+++
Abnormal ears+++−+
Nasal abnormalities+++++
Anteverted nares+−+−+
Palate (arched or cleft)−+−−+
Micrognathia+−+−+
Midface hypoplasia−−−+−
Hypertelorism−+−−−
Hearing deficit−−−+−
Thin upper lip−−−−+
Digital anomalies+++−+
Macrocephaly−−++−
Dolichocephaly+−−−−
Plagiocephaly−+−−+
Intellectual disability+++++
Attention deficit hyperactivity disorder+−−−−
Sensory processing disorder+−−−−
Speech delay++−++
Poor motor coordination+++++
Developmental delay+++++
Other behavioural issues+++++
Vertebral anomalies−+−−+
Renal anomalies−+−++
Cardiac malformations++−−+
Genital anomalies−+−−+
Skeletal anomalies++−−+
Dental abnormalities+−−−+
Grammatico et al. is a case series involving two patients. Adapted from Grammatico et al. [8], Bartolini et al. [9], Trachoo et al. [12], and Chaabouni et al. [13].