Phenotypic features of diploid/triploid mosaicism in an adult.

摘要

Our patient presented to Clinical Genetics at 29 years of age, having been diagnosed with Russell-Silver syndrome in infancy. She was the second child to nonconsanguin-eous white parents. She was born at 38 weeks gestation following induction for intrauterine growth retardation and poor placental function. Birth weight was 2.05 kg (0.4th-2nd centile) and length was 44 cm (0.4th centile). There were no immediate postnatal problems. She failed to thrive because of poor feeding and hypotonia. Absence seizures were noted from the age of 9 months and stopped at 6 years. Her development was globally delayed, with most of her education provided in special needs facilities. Tonic-clonic seizures, anxiety, depression, and obsessive behaviour were all diagnosed at 21 years. At 28, she was diagnosed with hypercholesterol-emia and non-insulin-dependent diabetes mellitus, both of which are seen in her family history. Poor weight gain and short stature were apparent in infancy and early childhood and her bone age was 3.0 years at 5.1 years. Growth hormone treatment was instituted at 6 years. Her weight began to increase at a similar point (Fig. 1). Breast development was noted at 9 years of age and Buserelin commenced to delay puberty, but she achieved menarche aged 11 years. At 29 years, she weighed 79.1 kg (98th centile) and obesity was confined to the trunk and proximal limbs.