All individuals with variants in gene ANGPT2

14 entries on 1 page. Showing entries 1 - 14.
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00405714 FetusIII4 PubMed: Smeland 2021 3-generation family, 4 affected fetuses,, unaffected heterozygous carrier parent M yes Norway Asia-C <00y00m00d - - - ? severe, progressive hydrops, 24w-intrauterine fetal death; 11w ultra sound normal, no measurement nuchal translucency; 19w+5 last menstrual period; 17w ultra sound screening hydrothorax, ascites, subcutaneous fluid; postmortem examination; Tetralogy of Fallot; 2-week discrepancy estimated due date from last menstrual period and from ultra-sound; no observed increase in number of lymphatic vessels; hydropic placenta, thick (3 cm), oedematous, weight 360 g 1 4 Audrey Debue
00405715 FetusIII5 PubMed: Smeland 2021 fetus F yes Norway Asia-C <0d - - - ? severe, progressive hydrops, 27w-intrauterine fetal death; 12w+3 ultra sound nuchal translucency 5.0, cystic hygroma subcutaneous fluid; 16w ultra sound hydrothorax, subcutaneous fluid, cystic hygroma; 26w ascites; postmortem examination; no cardiac anomalies; short long bones, bell-shaped thorax (due to hydrothorax/hypoplastic lungs; no observed increase in number of lymphatic vessels; hydropic placenta, thick (2,9 cm), weight 440 g, abnormal vascular architecture/proliferation vessels 1 1 Audrey Debue
00405716 FetusIII7 PubMed: Smeland 2021 fetus M yes Norway Asia-C <0d - - - ? early detected severe hydrops, 14w-termination of pregnancy; 12w+4 ultra sound cystic hygroma, subcutaneous fluid; 14w+4 ultra sound cystic hygroma and hydrothorax; no postmortem examination 1 1 Audrey Debue
00405717 FetusIII8 PubMed: Smeland 2021 fetus M yes Norway Asia-C <0d - - - ? early detected severe hydrops, 14w-spontaneous abortion; 11w+0 ultra sound nuchal translucency 3.7, generalised subcutaneous fluid, cystic hygroma; 12w+1 ultra sound nuchal translucency 6-7 mm; no postmortem examination 1 1 Audrey Debue
00405719 parents PubMed: Smeland 2021 parents of fetuses III4-III8 F;M - Norway Asia-C - - - - Healthy/Control - 2 2 Johan den Dunnen
00405725 LE-851-10 PubMed: Leppanen 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Belgium - - - - - LMPHM see paper; ... 1 1 Audrey Debue
00405726 LE-128-10 PubMed: Leppanen 2020 2-generation family, affected father/daughter F;M - Italy - - - - - LMPHM see paper; ... 1 2 Audrey Debue
00405727 LE-65-10 PubMed: Leppanen 2020 2-generation family, affected son/carrier father M - Israel - - - - - LMPHM see paper; ... 1 1 Audrey Debue
00405728 LE-148-1000 PubMed: Leppanen 2020 3-generation family, affected grandfather/father/son M - Italy - - - - - LMPHM see paper; ... 1 3 Audrey Debue
00405729 LE-623-10 PubMed: Leppanen 2020 2-generation family, affected daughter/carrier mother F - Italy - - - - - LMPHM see paper; ... 1 1 Audrey Debue
00428276 FamPatIII4 PubMed: Smeland 2023 3-generation family, 14affected, fetuses (F, 3M) unaffected heterozygous carrier parents/relatives M yes Norway Asia-C <00y00m00d - - - hydrops fetalis pregnancy severe, progressive hydrops, 24w-intrauterine fetal death; ultrasound 11w-normal, 19w+5 last menstrual period, 17w-screening hydrothorax, ascites, subcutaneous fluid; postmortem examination tetralogy of Fallot, 2w discrepancy estimated due date from last menstrual period and ultrasound, no observed increase in number of lymphatic vessels, hydropic placenta, thick (3cm), oedematous, weight 360g 2 4 Johan den Dunnen
00428277 FamPatIII5 PubMed: Smeland 2023 fetus F yes Norway Asia-C <00y00m00d - - - hydrops fetalis pregnancy severe, progressive hydrops, 27w-intrauterine fetal death; ultrasound 12w+3-nuchal translucency 5.0, cystic hygroma subcutaneous fluid, 16w-hydrothorax, subcutaneous fluid, cystic hygroma, 26w-ascites; postmortem examination no cardiac abnormalities; short long bones, bell-shaped thorax (due to hydrothorax/hypoplastic lungs); no observed increase in number of lymphatic vessels; hydropic placenta, thick (2.9cm), weight 440g, abnormal vascular architecture/proliferation vessels 2 1 Johan den Dunnen
00428278 FamPatIII7 PubMed: Smeland 2023 fetus M yes Norway Asia-C <00y00m00d - - - hydrops fetalis 14w-termination of pregnancy; pregnancy early detected severe hydrops; ultrasound 12w+4-cystic hygroma, subcutaneous fluid, 14w+4 cystic hygroma and hydrothorax 2 1 Johan den Dunnen
00428279 FamPatIII8 PubMed: Smeland 2023 fetus M yes Norway Asia-C <00y00m00d - - - hydrops fetalis 14w-spontaneous abortion; pregnancy early detected severe hydrops; ultrasound 11w+0 nuchal translucency 3.7, generalised subcutaneous fluid, cystic hygroma, 12w+1 nuchal translucency 6-7 mm 2 1 Johan den Dunnen
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