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Gynécologie Obstétrique & Fertilité, ISSN 1297-9589, 2011, Volume 39, Issue 12, pp. e77 - e80
Nous rapportons un cas rare de discordance fœto-placentaire complète concernant un enfant porteur d’une trisomie 21. Une ponction de villosités choriales a été... 
Discordance fœto-placentaire | Isochromosome 21 | True false negative of chorionic villi sampling | Biopsie de trophoblaste | Chorionic villi sampling | i(q10) | Villosités choriales | Chorionic villi
Journal Article
Internal Medicine, ISSN 0918-2918, 2016, Volume 55, Issue 22, pp. 3341 - 3345
We herein report a rare chromosomal abnormality observed in an acute promyelocytic leukemia (APL) patient. She had several APL derivative clones including a... 
cryptic translocation | i(q10) | acute promyelocytic leukemia | I(q10) | Cryptic translocation | Acute promyelocytic leukemia | MEDICINE, GENERAL & INTERNAL | FUSION | T(15/17) | ISOCHROMOSOMES | Index Medicus
Journal Article
Internal medicine (Tokyo, Japan), ISSN 0918-2918, 2016, Volume 55, Issue 22, pp. 3341 - 3345
Journal Article
Atlas of Genetics and Cytogenetics in Oncology and Haematology, ISSN 1768-3262, 2018, Volume 22, Issue 8, pp. 336 - 340
Journal Article
Leukemia, ISSN 0887-6924, 09/2013, Volume 27, Issue 9, pp. 1852 - 1860
Chronic myeloid malignancies are categorized to the three main categories myeloproliferative neoplasms (MPNs), myelodysplastic syndromes (MDSs) and MDS/MPN... 
monosomy 7 | MDS/MPN | SETBP1 | aCML | i(q10) | molecular marker | POLYCYTHEMIA-VERA | ACUTE MYELOID-LEUKEMIA | ESSENTIAL THROMBOCYTHEMIA | MOLECULAR MUTATIONS | ACTIVATING MUTATION | ONCOLOGY | CHRONIC MYELOPROLIFERATIVE DISORDERS | EXON 12 MUTATIONS | JAK2 | HEMATOLOGY | MYELODYSPLASTIC SYNDROMES | CHRONIC MYELOMONOCYTIC LEUKEMIA | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative - diagnosis | Humans | Middle Aged | Male | Isochromosomes | Young Adult | Aged, 80 and over | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative - genetics | Adult | Female | Nuclear Proteins - genetics | Chromosome Deletion | Proto-Oncogene Proteins c-cbl - genetics | Repressor Proteins - genetics | Mutation Rate | Myelodysplastic-Myeloproliferative Diseases - genetics | Chromosomes, Human, Pair 7 | Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative - mortality | Carrier Proteins - genetics | Myelodysplastic-Myeloproliferative Diseases - mortality | Myelodysplastic Syndromes - diagnosis | Myelodysplastic-Myeloproliferative Diseases - diagnosis | Bone Marrow - pathology | Myelodysplastic Syndromes - mortality | Aged | Myelodysplastic Syndromes - genetics | Mutation | Gene mutations | Physiological aspects | Genetic aspects | Research | Binding proteins | Myelodysplastic syndromes | Risk factors | Myeloproliferative disorders | Index Medicus
Journal Article
Atlas of Genetics and Cytogenetics in Oncology and Haematology, ISSN 1768-3262, 2018, Volume 22, Issue 10, pp. 435 - 441
Journal Article
International Journal of Human Genetics, ISSN 0972-3757, 03/2010, Volume 10, Issue 1-3, pp. 77 - 80
A 17-year old female has been referred for karyotyping and genetic counseling. Proband had primary amenorrhea, short stature and poorly developed secondary... 
Short Stature | Turner Syndrome | Genetic Counseling | Primary Amenorrhea | Poor Secondary Sexual Characters | Mosaic Isochromosome Xq | Short stature | Mosaic isochromosome xq | Poor secondary sexual characters | Genetic counseling | Primary amenorrhea | Turner syndrome
Journal Article
INTERNATIONAL JOURNAL OF HUMAN GENETICS, ISSN 0972-3757, 03/2010, Volume 10, Issue 1-3, pp. 77 - 80
A 17-year old female has been referred for karyotyping and genetic counseling. Proband had primary amenorrhea, short stature and poorly developed secondary... 
Short Stature | Turner Syndrome | Primary Amenorrhea | Poor Secondary Sexual Characters | GENETICS & HEREDITY | Genetic Counseling | Mosaic Isochromosome Xq
Journal Article
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