title: Prenatal diagnosis of partial monosomy 13q associated with occipital encephalocoele in a fetus.
abstract: The pre- and postnatal findings of a fetus with a de novo del(13)(pter-->q21:) and an occipital encephalocoele are described. Maternal serum alpha-fetoprotein (AFP) screening at 19 weeks' gestation demonstrated a high level of 2.5 multiples of the median (MOM) and ultrasonography at 27 weeks' gestation showed severe intrauterine growth retardation, cardiomegaly, an occipital encephalocoele, and a calvarial defect. Genetic amniocentesis revealed a karyotype of 46,XX,del(13)(pter-->q21:). The proband postnatally displayed additional abnormalities such as microphthalmia, hypertelorism, large low-set ears, and micrognathia. We discuss the association of central nervous system (CNS) malformations with 13q deletions and emphasize that pregnancies with neural tube defects warrant cytogenetic analysis, especially when additional fetal abnormalities and neonatal dysmorphism are observed.
authors.affiliation: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
authors.forename: C P
authors.initials: CP
authors.lastname: Chen
authors.forename: F F
authors.initials: FF
authors.lastname: Liu
authors.forename: S W
authors.initials: SW
authors.lastname: Jan
authors.forename: K G
authors.initials: KG
authors.lastname: Wang
authors.forename: C C
authors.initials: CC
authors.lastname: Lan
mesh_terms: D000328:Adult; D000649:Amniocentesis; D000653:Amniotic Fluid / Q000166:cytology; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics*; D004677:Encephalocele / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005260:Female; D005313:Fetal Death / Q000235:genetics / Q000473:pathology*; D005317:Fetal Growth Retardation / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D005817:Genetic Counseling; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000000981:diagnostic imaging / Q000196:embryology / Q000235:genetics; D011247:Pregnancy; D011256:Pregnancy Outcome; D016216:Ultrasonography, Prenatal