A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia

Table 1

Comparison of clinical features of patient with chromosome 3p deletion, 3p duplication, 5p deletion, and 5p duplication [7–10].

	3p deletion OMIM: 613792	3p duplication ORPHA: 96071	5p deletion OMIM: 123450	5p duplication ORPHA: 1742	Proband
Growth
Low birth weight	+		+		−
Short stature	+		+		+
Head
Microcephaly	+	+	+		+
Brachycephaly	+	+	+		−
Trigonocephaly	+				−
Dolichocephaly				+	−
Macrocephaly				+
Flat occiput	+				−
Face
Shape of face	Triangular	Square	Round	Long	Triangular
Frontal bossing		+			−
Broad forehead		+			−
Micrognathia	+	+	+	+	−
Retrognathia	+	+			+
Phitrum	Long	Prominent		Long	Long
Mouth
Downturned corners of mouth	+	+	+		+
Thin lips	+		+		+
High arched palate	+		+		−
Dental malocclusion			+		−
Ears
Low-set/dysmorphic	+	+	+	+	+
Hearing loss	+		+		+
Eyes
Palpebral fissures	Upslanting		Downslanting		Upslanting
Hypertelorism	+	+	+		+
Epicanthal folds	+		+	+	−
Strabismus	+		+		−
Synophrys	+				−
Ptosis	+				−
Myopia			+		−
Nose
Broad nasal bridge	+	+	+		−
Broad nasal tip	+				+
Heart
Atrioventricular defect	+		+		−
Patent ductus arteriosus		+	+		−
Abdomen
Feeding problems	+		+		−
Genitalia	Cryptorchidism in males	Hypogenitalism			Normal
Renal malformation	+	+			−
Skeletal
Cranial sutures	Prominent metopic suture				Normal
Postaxial polydactyly	+				+
Fingers	Tapering		Short fifth finger clinodactyly	Long	Tapering
Sacral dimple	+				−
Spine			Scoliosis/kyphosis		−
Muscle, soft tissue
Hypotonia	+		+	+	+
Spasticity	+		+		−
Neurologic/behavioral-psychiatric
Ataxic-like broad-based gait			+		+
Psychomotor retardation	+	+		+	+
Delayed speech	+				+
Seizure	+	+		+	−
Attention deficit hyperactivity disorder			+	+	−
Autism spectrum disorder			+		+
Sleep disturbances			+	+	−
Voice
High pitched cat‐like cry			+		−
MRI head findings			Hypoplastic/agenesis of the corpus callosum, periventricular leukomalacia, hydrocephaly, cerebral/cerebellar atrophy	Hydrocephalus/agenesis of the corpus callosum/Dandy–Walker malformation	−

+ indicates presence of clinical features. −indicates absence of clinical features. Blanks indicate features not reported.