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    Subjects/OBG/Gestational Trophoblastic Disease
    Gestational Trophoblastic Disease
    medium
    baby OBG

    What is the karyotype of a complete molar pregnancy in which the entire diploid complement is derived from the father?

    A. 69,XXY or 69,XXX (diandric triploidy)
    B. 46,XY with 46,XX (chimera)
    C. 46,XX or 46,XY (all paternal origin)
    D. 45,X (monosomy X)

    Explanation

    ## Karyotype of Complete Molar Pregnancy **Key Point:** Complete molar pregnancies are **diploid (46,XX or 46,XY) with 100% paternal origin of chromosomes**. This is called androgenesis or androgenetic diploidy. ### Mechanism of Formation **Mnemonic:** **EMPTY EGG RULE** — A complete molar pregnancy results from fertilization of an **empty ovum** (no maternal DNA) by one or two sperm. 1. Empty egg (no maternal chromosomes) is fertilized 2. Single sperm duplicates its own DNA → 46,XX (90% of cases) 3. OR two sperm fertilize the empty egg → 46,XY (10% of cases) ### Karyotype Distribution in Complete Molar Pregnancy | Karyotype | Frequency | Origin | Mechanism | |-----------|-----------|--------|----------| | 46,XX | 90% | Paternal (single sperm) | Sperm duplication | | 46,XY | 10% | Paternal (two sperm) | Dispermy | | **Total** | **100%** | **All paternal** | **Androgenesis** | **High-Yield:** The complete absence of maternal DNA is the defining feature that distinguishes complete from partial molar pregnancy. ### Contrast: Partial Molar Pregnancy Partial molar pregnancies are **triploid (69,XXY or 69,XXX)** with **two sets of paternal chromosomes and one maternal set**. This results from fertilization of a normal haploid egg by two sperm. ### Clinical Significance of Paternal-Only Karyotype - **Imprinting abnormality:** Absence of maternal imprinting leads to uncontrolled trophoblastic proliferation - **No fetal development:** Paternal genes alone cannot support normal embryogenesis; only trophoblastic tissue develops - **Very high hCG:** Uncontrolled trophoblastic growth produces markedly elevated β-hCG (often >100,000 mIU/mL) - **Higher malignant potential:** 15–20% risk of persistent GTD or choriocarcinoma [cite:Robbins & Cotran 10e Ch 22] ![Gestational Trophoblastic Disease diagram](https://mmcphlazjonnzmdysowq.supabase.co/storage/v1/object/public/blog-images/explanation/20833.webp)

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