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Table 2 The patient's phenotypic features compared to cases with mosaic trisomy 8 or 18

From: Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?

Our patient: Double tetrasomy 8+18 mosaicism

Trisomy 8

mosaicism

Trisomy 18

mosaicism

Short stature

 

+

Small head

+

+

Feeding problems

 

+

Developmental delay

+

+

Deafness, conductive

+

 

High frontal hairline/prominent forehead

+

+

Low-set/posteriorly rotated ears

+

+

Crumpled ear helices

 

+

Narrow/atretic auditory canals

+

 

Middle ear abnormalities

 

+

Short palpebral fissures

 

+

Epicantic folds

 

+

Downslant

+

 

Broad nasal bridge

+

+

Thin upper lip

 

+

Small chin

+

+

Short neck

+

+

Skin pigmentation anomalies

+

 

Overriding toes

 

+

Coarctatio aortae

 

+

Ventricular septal defect (VSD)

+

+

Persistent ductus arteriosus (PDA)

+

+

Retinitis pigment.-like findings in retina

+