Table 1 Clinical phenotypes of proband, and their presence/absence among reported cases of CS and dup16p11.2

Pregnancy/birth

Reduced fetal activity

+

-

Low birth weight

+

-

Feeding difficulty

+

-

Neurocognitive

DD/ID^ab

+

+

ASD^b

+

+

Happy/friendly disposition^a

+

-

Hypotonia^b

+

+

Verbal apraxia

+

-

Motor delay^b

+

+

Poor motor coordination

+

+

Brisk reflexes

+

-

Build/stature

Underweight^b (≤4y/o)

-

+

Short stature

+

+

Truncal obesity^a (childhood)

+

-

Cranium/hair

Microcephaly^{a b} (postnatal)

+

+

Flat occiput

-

-

Double hair whorls

-

-

Low hairline^a (anterior)

+

+

Thick hair^a

+

-

Forehead/face/nose

Narrow forehead

+

-

Micrognathia/mild retrognathia

+

+

Malar hypoplasia

+

-

Depressed nasal root

-

-

Short triangular nose

-

-

Mouth/oral region

Small mouth

+

-

Thick upper lip

+

-

Short/smooth philtrum^a

+

+

High-arched palate

+

+

Thickened alveolar ridges

-

-

Prominent upper central incisors

+

-

Eye/eye globe/vision

Hypertelorism

+

+

Ptosis (bilateral)

+

-

Blepharophimosis

-

-

Wave shaped eyelids^a

+

-

Thick eyebrow^a

+

-

Long/thick eyelashes^a

+

-

Myopia^a

+

+

Diffuse retinal dystrophy^a

+

-

Ears/hearing

Large ears

+

+

Posteriorly rotated ears

+

+

Auricular pits

+

+

Hearing loss (unilateral sensorineural)

+

-

Abdomen/thorax

Diastasis recti

-

-

Hypoplastic nipples

-

-

Extremities/musculoskeletal

Slender extremities/tapered fingers^a

+

+

Joint hypermobility^a

+

+

Club foot (bilateral)

+

-

Sandal gap

+

+

Scoliosis

+

+

Genitalia/urinary tract

Hypospadias

-

+

Cryptorchidism

+

+

Haematology/Immunology

Chronic anemia

+

-

Recurrent infection (UTI)

+

-

Intermittent neutropenia^a

+

-