Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat.
Alobar holoprosencephaly (HPE) was identified by ultrasonography at 18 weeks' gestation in a fetus of a 29-year-old G2P0A1 woman. HPE has been described in association with various chromosomal anomalies. Amniocentesis was performed and a rearrangement of chromosome 18 resembling an isochromosome for the long arm of chromosome 18 was found. Subsequently, the mother was found to have a pericentric inversion of chromosome 18 with breakpoints at p11.31 and q11.2. The karyotype of the fetus was re-interpreted as 46,XX, rec(18)dup(18q)inv(18)(p11.31q11.2)mat. This is the first case of a parental inversion leading to a deficiency of 18p11.31 to 18pter associated with HPE.
Leonard
N J
NJ
Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada. norma.leonard@ualberta.ca
Tomkins
D J
DJ
Demianczuk
N
N
D000328:Adult; D000649:Amniocentesis; D007446:Chromosome Inversion; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D005260:Female; D016142:Holoprosencephaly / Q000000981:diagnostic imaging* / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D016216:Ultrasonography, Prenatal