From: 14q32.3-qter trisomic segment: a case report and literature review
Present case | Mikelsaar et al. [6] | Carter et al. [8] case 4 | Sutton et al. [9] | |
---|---|---|---|---|
duplicated region | q32.13q32.33 21p pat | q24q32 ins(4;14)pat | q32.1qter 21p de novo | q32.3qter 22p mat |
age at diagnosis | 1y 5 m. | 9 m | 1y | 3y |
patient sex | male | female | male | female |
small at birth | + | + | + | |
MR or DD | + | + | + | + |
microcephaly | + | + | ||
hypothyroidism | + | - | ||
prominent/high forehead | + | + | - | |
hypertelorism | + | + | ||
down slanting palpebral fissures | - | |||
broad and flat nasal bridge | + | |||
bulbous nasal tip | + | - | ||
anteverted nostrils | + | |||
dysplastic/hypoplastic ear helices | - | + | ||
short philtrum | - | - | ||
thin upper lip with exaggerated Cupid’s bow | + | + | ||
broad mouth | + | + | ||
micrognathia | - | + | + | |
brachydacytly/clinodactyly | - | |||
high palate | - | + | ||
partial agenesis/hypoplasia of corpus callosum | + | - | + | |
congenital heart defect | + | - | + VSD, ASD aortic conus | |
neural tube defect | - | - | + myelomeningocele | |
diaphragmatic hernia | - | |||
gastroesophageal reflux disease | + | |||
hypotonia | + | + | + | |
umbilical hernia | + |