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.
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.