Research output: Contribution to Journal/Magazine › Journal article › peer-review
Research output: Contribution to Journal/Magazine › Journal article › peer-review
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TY - JOUR
T1 - Genomic imprinting in gestational trophoblastic disease
T2 - a review
AU - Fisher, R. A.
AU - Hodges, Matt
PY - 2003/4
Y1 - 2003/4
N2 - The abnormal pregnancy hydatidiform mole (HM) can be classified as complete (CHM) or partial (PHM) on the basis of both morphology and genetic origin. PHM are diandric triploids while almost all CHM are androgenetic. Thus the characteristic trophoblastic hyperplasia seen in both CHM and PHM is usually associated with the presence of two paternal genomes. Very occasionally CHM may be diploid, but biparental, in origin. These rare BiCHM are found in patients with recurrent HM and appear to be associated with an autosomal recessive condition predisposing to molar pregnancies. Since they are pathologically indistinguishable from androgenetic CHM, BiCHM are also likely to result from defects in genomic imprinting. There is evidence that the gene mutated in this condition, provisionally mapped to 19q13.3–13.4, may be important in setting the maternal imprint in the ovum. Women with BiCHM have a much higher risk of recurrent HM than women with AnCHM and an appreciable risk of persistent trophoblastic disease. Investigation of these unusual BiCHM and isolation of the defective gene will lead to a greater understanding of the function of genomic imprinting in early development.
AB - The abnormal pregnancy hydatidiform mole (HM) can be classified as complete (CHM) or partial (PHM) on the basis of both morphology and genetic origin. PHM are diandric triploids while almost all CHM are androgenetic. Thus the characteristic trophoblastic hyperplasia seen in both CHM and PHM is usually associated with the presence of two paternal genomes. Very occasionally CHM may be diploid, but biparental, in origin. These rare BiCHM are found in patients with recurrent HM and appear to be associated with an autosomal recessive condition predisposing to molar pregnancies. Since they are pathologically indistinguishable from androgenetic CHM, BiCHM are also likely to result from defects in genomic imprinting. There is evidence that the gene mutated in this condition, provisionally mapped to 19q13.3–13.4, may be important in setting the maternal imprint in the ovum. Women with BiCHM have a much higher risk of recurrent HM than women with AnCHM and an appreciable risk of persistent trophoblastic disease. Investigation of these unusual BiCHM and isolation of the defective gene will lead to a greater understanding of the function of genomic imprinting in early development.
KW - review
KW - hydatidiform mole
U2 - 10.1053/plac.2002.0939
DO - 10.1053/plac.2002.0939
M3 - Journal article
VL - 24
SP - s111-s118
JO - Placenta
JF - Placenta
SN - 0143-4004
IS - Suppl. A
ER -