A genetic review of complete and partial hydatidiform moles and nonmolar triploidy.
Complete and partial hydatidiform moles are genetically aberrant conceptuses. Usually, complete moles have 46 chromosomes (diploidy), all of paternal origin. Most partial moles have 69 chromosomes (triploidy), including 23 of maternal origin and 46 of paternal origin. Triploidy that involves 23 paternal chromosomes and 46 maternal chromosomes is not associated with molar placental changes and, rarely, can result in a live-born infant with multiple birth defects. Herein we review the mechanisms of fertilization that may produce these unbalanced sets of parental chromosomes and the role of genomic imprinting as a possible explanation for these clinical conditions.
Lindor
N M
NM
Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905.
Ney
J A
JA
Gaffey
T A
TA
Jenkins
R B
RB
Thibodeau
S N
SN
Dewald
G W
GW
D005260:Female; D005315:Fetal Diseases / Q000235:genetics*; D006801:Humans; D006828:Hydatidiform Mole / Q000235:genetics; D007621:Karyotyping; D011003:Ploidies; D011247:Pregnancy; D014594:Uterine Neoplasms / Q000235:genetics