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Aneuploidy
- Reviews & Chapters - Aneuploidies
45,X-47,XYY mosaicism - Robert Roger Lebel, MD ,Jeannette N. Israel, MD ,Radhika Chawla, MD
4p-
8p– syndrome - William J. Watson, MD*
9p-syndrome associated with esophageal atresia - Ingrid Witters, MD ,Philippe Moerman, MD ,Jean-Pierre Fryns, MD.
Brachymesophalangia of the 5th digit - Raul Martinez, MD
Chromosome 14 ring - Heredia ,Johns ,Bircher ,Jeanty ,Dev
Chromosome 15 ring, 46XX,r(15) - Cuillier F, MD ,Denies, MD ,Riviere JP, MD
Deletion 22q11.2 syndrome - F Cuillier ,A Bertha ,JL Dalessandri
Ductus venosus Doppler in aneuploidy, score at 13 weeks - Luc Gourand, MD
Fragile X syndrome
Klinefelter - Alberto Sosa, MD
Knee dislocation, partial deletion of chromosome 10 - Ian Suchet
Monosomy X
Mosaic 46xx/ Partial monosomy 15q26 - Juan Carlos Quintero Mejia, MD
Partial trisomy 15 (q24-qter) - Francois Manson, MD
Partial trisomy 6q associated with hydrops and early fetal malformations - Andrés Arencibia Molina ,Giner Ramón.
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
Tetrasomy 21
Triploidy
Trisomy 9 - Alberto Sosa Olavarría, MD, PhD ,Jose Sierra, MD ,Gelsy Giugni Chalbaud ,Luis Díaz Guerrero, MD,
Trisomy 13
Trisomy 16 - Juan Carlos Quintero M. MD ,Pamela Crum, RDMS ,Philippe Jeanty MD, PhD
Trisomy 18
Trisomy 21
Trisomy 22
Trisomy 22, placenta - Dominique Thomas, MD ,Michel Bossens, MD ,Margarida Freund, MD ,Ernesto Camacho, MD ,Christine Mülle
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