Obstetrics & Gynaecology · Ectopic Pregnancy and Gestational Trophoblastic Disease

Regarding the cytogenetics of a classic complete hydatidiform mole, which statement is correct?

  • A Triploid, with one maternal and two paternal haploid genomes
  • B Tetraploid, arising from fertilisation of a normal ovum by two sperm
  • C Diploid 46,XY with equal maternal and paternal contribution
  • D Diploid 46,XX in about 90 percent of cases, with all nuclear genetic material paternally derived
Correct answer: D. Diploid 46,XX in about 90 percent of cases, with all nuclear genetic material paternally derived

Explanation

About 90 percent of complete moles are 46,XX, formed when an empty (anucleate) ovum is fertilised by a 23,X sperm that then duplicates its genome, so all chromosomes including sex chromatin are paternal; the remaining 10 percent are 46,XY from dispermy, still entirely paternal. Mitochondrial DNA remains maternal. Triploidy with one maternal and two paternal sets defines a partial mole, and tetraploidy is not a recognised molar mechanism, which eliminates options A and B.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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