Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: Prenatal and postnatal late replication studies |
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Authors: | Roberto T Zori Brian A Gray Angela Bent-Williams Daniel J Driscoll Charles A Williams Joleen L Zackowski |
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Institution: | Division of Genetics, Department of Pediatrics and the Center for Mammalian Genetics, University of Florida, Gainesville, Florida |
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Abstract: | 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 break-points and/or position effects on chromosome 9, inducing expression of a gene responsible for the syndrome. © 1993 Wiley-Liss, Inc. |
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Keywords: | Nager syndrome X/autosome translocation X inactivation chromosome 9 chromosome X |
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