MOSAIC R(13) IN AN INFANT WITH APROSENCEPHALY

We report on a stillborn male infant with a mosaic ring 13 karyotype ( 45,XY, - 13/46, XY, - 13, + r(13)) with apparent aprosencephaly and cl inical findings similar to those reported previously in the XK-aprosen cephaly syndrome. Findings of patients with r(13) are often similar to those seen in individuals with del(13q). This case was unusual becaus e of the presence of aprosencephaly, although brain malformations such as arhinencephaly and cerebellar hypoplasia are present in at least o ne-half of reported patients with 13q-. The overlap between these synd romes suggests a possible chromosomal model of the XK-aprosencephaly s yndrome. (C) 1993 Wiley-Liss, Inc.