Ling Sun¹, Lucy Gugasyan¹, Matthew Hunter², Abhijit Kulkarni¹

¹Cytogenetics, Monash Health, 246 Clayton Road, Clayton, 3168, VIC

²Monash Genetics, Monash Health, 246 Clayton Road, Clayton, 3168, VIC

Orofaciodigital syndrome has an estimated incidence of 1 in 50,000 to 250,000 newborns, most of which are due to abnormalities in the OFD1 gene on the X chromosome. This syndrome is inherited in an X-linked dominant pattern and is seen mostly in females. CGH microarray analysis performed on a one week old female with clinical features including in utero growth retardation (IUGR), cleft palate, wide set eyes, and tri-lobed tongue showed a ~0.42Mb copy number loss in Xp22.2 encompassing the OFD1 gene. Additionally, a copy number gain of ~6.15Mb in 6q24 was also detected. This change is associated with 6q24-related transient neonatal diabetes mellitus (TNDM). TNDM is present in infancy and usually resolves within the first few months of life, although it often recurs later. IUGR is also a typical characteristic of affected individuals. Further investigation showed this patient to have hyperglycaemia and abnormal digits. We therefore present a rare case of a newborn who was diagnosed simultaneously with orofaciodigital syndrome and TNDM.

Biography

Ling Sun is a medical scientist at Monash Health, specialising in cytogenetics and molecular genetics. Previously, Ling worked as a laboratory assistant at St. Vincent’s Hospital, where she discovered her interest in clinical diagnostics. She graduated with honours from the University of Melbourne with a degree of Biomedical Science.