title: The fetal phenotype of the 18p-syndrome. Report of a male fetus at twenty-one weeks.
abstract: Morphological and cytogenetic findings in a male fetus at 21 weeks gestation after prenatally detected monosomy 18p are reported. The fetus displayed dysmorphic features resembling the 18p-syndrome, such as decreased head circumference, slightly receding forehead, hypertelorism, epicanthus, horizontal palpebral fissures, depressed nasal bridge, long philtrum, carp mouth, irregular crenated maxillar alveolar ridge, retrognathia, lowset dysplastic ears with posterior rotation, edema of neck, hands and feet respectively, fingers with drop-shaped tips, short first toes with dysplastic nails, hypoplastic male external genitalia. After termination of the pregnancy, biopsies from different fetal organs as well as from the placenta were taken and set up for long term cell cultures. The metaphases of fetal organs all showed the karyotype 46,XY,18p-. A fetal blood culture failed to grow. Unexpectedly, the metaphases of the placenta showed the mosaic karyotype 46,XY/46,XY,18p-/46,XY,18p+.
authors.affiliation: Pathologisches Institut, Evangelisches Krankenhaus, Köln.
authors.forename: H
authors.initials: H
authors.lastname: Göcke
authors.forename: I
authors.initials: I
authors.lastname: Muradow
authors.forename: W
authors.initials: W
authors.lastname: Stein
mesh_terms: D002869:Chromosome Aberrations / Q000473:pathology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002887:Chromosomes, Human, Pair 18; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009006:Monosomy; D010641:Phenotype; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis