PMC3652044_01
The photograph shows the facial features with downslanting palpebral fissure, large and low-set ears with preauricular pit, and micrognathia.
CRIM.PEDIATRICS2013-237935.001.jpg
PMC3652044_01_CRIM.PEDIATRICS2013-237935.001.jpg
fig1
He had a remarkable facial appearance which included prominent forehead with dilated veins, widely separated eyes with downslanting palpebral fissure, broad nasal bridge, prominent philtrum, bilateral large and low-set ears with preauricular pit (Figures 1 and 2).
The photograph shows the facial features with prominent forehead, widely separated eyes with downslanting palpebral fissure, and micrognathia.
CRIM.PEDIATRICS2013-237935.002.jpg
PMC3652044_01_CRIM.PEDIATRICS2013-237935.002.jpg
fig2
He had a remarkable facial appearance which included prominent forehead with dilated veins, widely separated eyes with downslanting palpebral fissure, broad nasal bridge, prominent philtrum, bilateral large and low-set ears with preauricular pit (Figures 1 and 2).
The patient's karyotype shows an extra supernumerary chromosome.
CRIM.PEDIATRICS2013-237935.003.jpg
PMC3652044_01_CRIM.PEDIATRICS2013-237935.003.jpg
fig3
Karyotyping using G-banding analysis at 550 band levels showed an extra supernumerary marker chromosome (SMC) with supernumerary derivative (22)t(11;22) (Figure 3).
His mother's karyotype shows a balanced non-Robertsonian translocation between chromosome 11 and chromosome 22.
CRIM.PEDIATRICS2013-237935.004.jpg
PMC3652044_01_CRIM.PEDIATRICS2013-237935.004.jpg
fig4
The mother was found to be a balanced carrier; 46,XX,t(11;22)(q23.3;q11.2) (Figure 4).