Abstract for presentation at 11th International Congress of Human Genetics

De novo recombinant chromosome 11 with partial monosomy 11q25-ter and partial trisomy 11p15.1-ter; first case report and discussion of the underlying mechanism

  • Ms Jennifer Bryan, Cytogenetics Laboratory, Mater Health Services, Brisbane, Queensland, Australia
  • A/Prof Julie McGaughran, Queensland Clinical Genetics Service, Royal Children's Hospital and Health District, Brisbane, Queensland, Australia

    • We report a male infant with multiple congenital anomalies who was found to have a peripheral blood karyotype of 46,XY,rec(11)dup(11p)inv(11)(p15.1q25)de novo.ish rec(11)(D11S2071++,11PTEL034++, VIJ2yRM22094++,D11S1037-).

    He was born at 38 weeks gestation weighing 1790g. He had a large head and anterior fontanelle. He had short palpebral fissures with epicanthic folds, posterior angulated ears with upturned lobes and a small chin. He also had clinodactyly, a deficient foreskin and undescended testes. He had a small muscular vsd and developed left ventricular hypertrophy which was not explained by his vsd. He had bilateral optic nerve hypoplasia and nystagmus. At 9 months of age he had significant developmental delay and poor growth.

    Further studies were carried out following the diagnosis of the karyotypic abnormality. Chorionic villi from the placenta were cultured. This gave a mosaic pattern of 46,XY,rec(11)dup(11p)inv(11)(p15.1q25)/46,XY,add(11)(q25)/46,XY. Methylation analysis at two 11p15.5 imprinted loci showed no abnormality.

    The results and interpretation as well as the clinical phenotype will be presented.

    Conference Organiser - ICMS Pty Ltd