| Literature DB >> 11113905 |
N J Leonard1, D J Tomkins, N Demianczuk.
Abstract
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. Copyright 2000 John Wiley & Sons, Ltd.Entities:
Mesh：
Year: 2000 PMID： 11113905 DOI： 10.1002/1097-0223(200012)20:12<947::aid-pd957>3.0.co;2-x
Source DB: PubMed Journal: Prenat Diagn ISSN： 0197-3851 Impact factor: 3.050