Trisomy 18 and 18p- features in a case of isochromosome 18q [46,XY,i(18q)]: prenatal diagnosis and autopsy report.
This paper reports the prenatal diagnosis and autopsy findings of a case of true isochromosome 18q [46,XY,i(18q)] with severe cephalic malformations. Comparison is made with other cases of i(18q).
Wurster-Hill
D H
DH
Department of Pathology, Dartmouth-Hitchcock Medical Center, Hanover, N.H.
Marin-Padilla
J M
JM
Moeschler
J B
JB
Park
J P
JP
McDermet
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000175:diagnosis / Q000235:genetics*; D016142:Holoprosencephaly / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014314:Trisomy