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

• Published in: Prenatal diagnosis Vol. 20; no. 12; pp. 947 - 949
• Main Authors: Leonard, Norma J., Tomkins, Darrell J., Demianczuk, Nestor
• Format: Journal Article
• Language: English
• Published: Chichester, UK John Wiley & Sons, Ltd 01.12.2000; Wiley
• Subjects: 18p; Adult; Amniocentesis; Biological and medical sciences; chromosome; Chromosome aberrations; Chromosome Inversion; Chromosomes, Human, Pair 18 - genetics; Diseases of mother, fetus and pregnancy; Female; Gynecology. Andrology. Obstetrics; holoprosencephaly (HPE); Holoprosencephaly - diagnostic imaging; Holoprosencephaly - genetics; Humans; Medical genetics; Medical sciences; Pregnancy; Pregnancy. Fetus. Placenta; prenatal; Ultrasonography, Prenatal; ultrasound; Chromosomal aberration; Sonography; Human; Amniocentesis; Arhinencephaly; Nervous system diseases; Congenital disease; Cerebral disorder; Case study; Prenatal; Abnormal chromosome E18; Malformation; Etiology; Central nervous system disease; Echography; Cytogenetics; Abnormal chromosome; Fetus; Diagnosis; Karyotype; Chromosome inversion
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/1097-0223(200012)20:12<947::AID-PD957>3.0.CO;2-X

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.