Chromosome 2p15p16.1 microdeletion is an emerging syndrome recently described in patients with dysmorphic facial features, congenital microcephaly, mild to moderate developmental delay and neurodevelopmental abnormalities. Using clinical ultra-high resolution Affymetrix SNP 6.0 array we identified a
A 47-day-old female infant presented with congenital inguinal hernia, seizure on the 2(nd) day of life, fever, progressive jaundice, acholic stools and distension of abdomen. She was suspected to have choledochal cyst with extrahepatic biliary atresia (EHBA) and referred for an Hepatobiliary Tc-99m
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