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 folds11
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.