Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies

Am J Med Genet. 1993 Jun 1;46(4):379-83. doi: 10.1002/ajmg.1320460407.


We report on an infant with preaxial acrofacial dysostosis (Nager syndrome) who was diagnosed prenatally as having an apparently balanced X/autosome translocation [46,X,t(X;9)(p22.1;q32)mat] inherited from a previously diagnosed mosaic translocation carrier mother [46,XX/46,X,t(X;9)(p22.1;q32)]. Replication studies on amniocytes showed the normal X chromosome to be late replicating while the same studies repeated on the infant's lymphocytes showed the translocated X chromosome to be late replicating in most cells. Late replication studies of the mother's lymphocytes demonstrated that the normal X chromosome was late replicating in most cells. The presence of Nager syndrome in this infant may be the result of critical breakpoints and/or position effects on chromosome 9, inducing expression of a gene responsible for the syndrome.

MeSH terms

  • Amniotic Fluid / cytology
  • Chromosomes, Human, Pair 9*
  • Craniofacial Dysostosis / genetics*
  • DNA Replication
  • Dosage Compensation, Genetic
  • Heterozygote
  • Humans
  • Lymphocytes / physiology
  • Mosaicism
  • Postnatal Care / methods
  • Prenatal Diagnosis / methods
  • Sex Chromosome Aberrations / genetics*
  • Syndrome
  • Translocation, Genetic*
  • X Chromosome*