Functional disomy of Xp: Prenatal findings and postnatal outcome

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<jats:title>Abstract</jats:title><jats:p>We report on trisomy of the short arm of the X chromosome (Xp11.2 → pter) due to a de novo unbalanced X;13 translocation diagnosed prenatally in a female fetus. Amniocentesis was performed at 20‐weeks' gestation following ultrasound finding of a Dandy–Walker malformation. The trisomy of Xp11.2 → pter was confirmed with fluorescence in situ hybridization (FISH), using an X chromosome painting probe and telomeric FISH probes specific for the short arm of chromosome X. The karyotype was defined as 46,XX,der(13)t(X;13)(p11.2;p11.2). Molecular analysis suggested that the extra Xp material was of paternal origin. FISH analysis with an <jats:italic>XIST</jats:italic> probe showed that the derivative chromosome 13 did not include the XIST locus at the X‐inactivation center (XIC). A complex phenotype was seen at birth including macrosomia, facial dysmorphism with preauricular tag, congenital heart defects, and structural brain malformations. Because the derivative chromosome was not subject to X inactivation, functional disomy of Xp11.2 → pter most likely accounts for the abnormal phenotype in this patient. © 2005 Wiley‐Liss, Inc.</jats:p>

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