Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat

✍ Scribed by Norma J. Leonard; Darrell J. Tomkins; Nestor Demianczuk

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 120 KB
• Volume: 20
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/1097-0223(200012)20:12<947::aid-pd957>3.0.co;2-x

✦ Synopsis

Alobar holoprosencephaly (HPE) was identi®ed 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 reinterpreted as 46,XX,rec( 18)dup(18q)inv(18)(p11.31q11.2)mat. This is the ®rst case of a parental inversion leading to a de®ciency of 18p11.31 to 18pter associated with HPE.