Feature Present case 6p trisomy † 10q26 deletion ‡
Total number of patients 1 1 20(100)
Craniofacial dysmorphism 20(100)
Microcephaly N/A 11(79)
Brachycephaly × N/A 1(25)
Craniosynostosis × 1(25)
Widow’s peak × N/A 1(25)
Tall forehead × 7(88)
Bitemporal narrowing × N/A 3(75)
Ear anomalies 17(85)
Thick eyebrows N/A 1(25)
Deep set eyes × N/A 2(50)
Strabismus × 13(81)
Broad/prominent nose × N/A 18(90)
Choanal atresia × N/A 1(100)
Hypertelorism × N/A 7(50)
Long philtrum × 10(56)
Thin vermilion of the lips × 10(59)
Downturned corners of the mouth × N/A 1(20)
Bifid uvula × N/A 1(25)
Posterior cleft palate × N/A 3(25)
High arched palate 2(40)
Broad chin × N/A 5(71)
Micrognathia × N/A 4(57)
Neurologic abnormalities 19(95)
Developmental delay 19(95)
Intellectual disability 16(84)
Behavioral problems 7(70)
Seizure N/A 1(100)
Hypotonia N/A 8(89)
Limb anomalies N/A 11(69)
Clinodactyly × N/A 9(56)
Tapering of the fingers × N/A 2(22)
Short fifth metacarpal bones N/A 2(10)
Brachydactyly × N/A 1(25)
Planovalgus foot N/A 2(25)
Overlapping toes 1(25)
Hypoplastic toenails N/A 1(25)
Congenital heart disease 7(58)
Patent ductus arteriosus × N/A 5(71)
Ventricular septal defect N/A 3(60)
Atrial septal defect × N/A 1(100)
Ventricular asymmetry × N/A 1(25)
Urinary tract/renal anomalies × 5(42)
Hydronephrosis × 3(33)
Dilated right ureter × N/A 1(20)
Right kidney × N/A 1(20)
Small kidneys × N/A 1(33)
Vesicoureteral reflux × N/A 1(33)
Genital anomalies N/A 7(50)
Cryptorchidism N/A 3(43)
Right undescended testicle × N/A 1(25)
Small labia minora and majora N/A N/A 1(33)
Small labia majora N/A N/A 1(33)
CNS malformations N/A 4(33)
Global cerebellar hypoplasia N/A 1(25)
Pineal cyst N/A 1(20)
Enlargement of the cisterna magna × N/A 1(33)
Others N/A 0(0)
low birth weight 0(0)
Immunodeficiency × 0(0)
Hearing loss N/A 4(33)
Duodenal atresia × N/A 1(100)