Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies.
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.
Zori
R T
RT
Department of Pediatrics, University of Florida, Gainesville.
Gray
B A
BA
Bent-Williams
A
A
Driscoll
D J
DJ
Williams
C A
CA
Zackowski
J L
JL
D000653:Amniotic Fluid / Q000166:cytology; D002899:Chromosomes, Human, Pair 9; D003394:Craniofacial Dysostosis / Q000235:genetics*; D004261:DNA Replication; D004303:Dosage Compensation, Genetic; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes / Q000502:physiology; D009030:Mosaicism; D011181:Postnatal Care / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014178:Translocation, Genetic; D014960:X Chromosome