Case Reports in Genetics

Case Report

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features

Table 1

Comparison of phenotypic features of patients with chromosome 3p duplication with terminal deletion.
Phenotypic FeaturesCommon Features of 3pterp25 Deletion SyndromeCommon Features of Chromosome 3pterp24 DuplicationsOur PatientJenderny PatientKennedy Patient
46XX,der(3)del(3)(p26.3p 26.1)dup(3)(p24.3p26.1)46,XX,invdup(3)(qter > p26::p26- > p21.3::p26)46,XY,der(3)del(3)(p26)d up(3)(p26p21.3)
Congenital heart defects ++++
Dilated aorta, pulmonary artery  +  
Umbilical hernia  +  
Cleft lip and palate  -++
Holoprosencephaly  - +
Meningomyelocele  - +
Microcephaly+ ++ 
Supernumerary nipple  +  
Hemangiomas  +  
Trigonocephaly+ -  
Micro/retrognathia+ -+ 
Growth retardation+ +- 
Feeding difficulties  +  
Neutropenia, autoimmune  +(resolved)  
Anemia  +(resolved)  
Hypothyroidism  +  
Hypotonia+ +  
Developmental delay/psychomotor retardation++++ 
Intellectual disability++ + 
Sleep abnormalities  +  
Astigmatism  +  
Myopia  +  
Ptosis+ +(resolved)- 
Prominent epicanthal folds1 1  
Square-shaped face +-+ 
Frontal bossing +-+ 
Temporal indentation  -+ 
Prominent cheeks  -+ 
Hypertelorism++++ 
Downslanting palpebral fissures+ -  
Abnormal nose+ +  
Abnormal philtrum+ +  
Down-turned corners of the mouth +-+ 
Prominent middle upper lip +- 
Eversion of lips  -+ 
Low-set/dysmorphic ears+++  
Short neck +-+ 
Based on features reported in ≥50% of patients reviewed by Fernandez et al. 2008 [9].
Based on features reported in ≥50% of patients (Case Numbers 12-14, 20, 31, 35, 43, 44) reviewed by Conte et al. 1995 [2].
Blanks indicate features not reported as positive or negative findings in individual patients.