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- Reviews & Chapters - Aneuploidies
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45,X-47,XYY mosaicism - Robert Roger Lebel, MD ,Jeannette N. Israel, MD ,Radhika Chawla, MD
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4p-, Wolf-Hirschhorn syndrome
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8p– syndrome - William J. Watson, MD*
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9p-syndrome associated with esophageal atresia - Ingrid Witters, MD ,Philippe Moerman, MD ,Jean-Pierre Fryns, MD.
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Brachymesophalangia of the 5th digit - Raul Martinez, MD
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Chromosome 14 ring - Heredia ,Johns ,Bircher ,Jeanty ,Dev
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Chromosome 15 ring, 46XX,r(15) - Cuillier F, MD ,Denies, MD ,Riviere JP, MD
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Cri-du-chat syndrome - Emmanuel Julien, MD., Eva Leinart, MD PhD.
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Deletion 22q11.2 syndrome - F Cuillier ,A Bertha ,JL Dalessandri
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Ductus venosus Doppler in aneuploidy, score at 13 weeks - Luc Gourand, MD
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Fragile X syndrome
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Klinefelter - Alberto Sosa, MD
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Knee dislocation, partial deletion of chromosome 10 - Ian Suchet
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Monosomy X
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Mosaic 46xx/ Partial monosomy 15q26 - Juan Carlos Quintero Mejia, MD
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Partial trisomy 15 (q24-qter) - Francois Manson, MD
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Partial trisomy 6q associated with hydrops and early fetal malformations - Andrés Arencibia Molina ,Giner Ramón.
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Pentasomy X syndrome - Andrey Averyanov, MD., Margarita Nikolenko, MD., Irina Glazkova, MD., Lyudmila Khlevnaya, MD., Svetlana Arbuzova, MD PhD.
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Prenatal dg by direct FISH on chorionic villi of duplic of 12 (pter-p11.21) combined with del 6(q27) - Ingrid Witters, MD PhD ,Jean-Pierre Fryns, MD PhD
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Tetrasomy 21
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Triploidy
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Trisomy 9 - Alberto Sosa Olavarría, MD, PhD ,Jose Sierra, MD ,Gelsy Giugni Chalbaud ,Luis Díaz Guerrero, MD,
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Trisomy 13
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Trisomy 16 - Juan Carlos Quintero M. MD ,Pamela Crum, RDMS ,Philippe Jeanty MD, PhD
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Trisomy 18
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Trisomy 21
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Trisomy 21 - Emmanuel Julien, MD.
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Trisomy 21, 12 weeks - Francesco Contarin
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Trisomy 21, Trisomy 13, and Monosomy X, first trimester - M Juhás, J Janovský, J Šantavý, J Hyjánek, P Urdzík
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Trisomy 22
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Trisomy 22, placenta - Dominique Thomas, MD ,Michel Bossens, MD ,Margarida Freund, MD ,Ernesto Camacho, MD ,Christine Mülle
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