Results 171 to 180 of about 9,097 (228)

What the VAF? A guide to the interpretation of variant allele fraction, percent mosaicism, and copy number in cancer. [PDF]

Mol Cytogenet
Smith AC, Tsui H, Usta S, Capo-Chichi JM.   +3 more
europepmc   +1 more source

First trimester Down\u92s syndrome screening The role of biochemistry [PDF]

Ranta-Ylikulju, Jenni
core  

Myelodysplastic Syndrome With Complex Chromosomal Karyotype Abnormalities Complicated by Multiple Intestinal Perforations: A Case Report and Literature Review. [PDF]

Case Rep Gastrointest Med
Niu ZY, Zhu MF, Tao M, Zhang C, Gu F, Li J.   +5 more
europepmc   +1 more source

Maternal uniparental disomy of chromosome 15 with concurrent paternal non-chromosome 15 marker chromosome: a rare presentation of prader-willi syndrome. [PDF]

Mol Cytogenet
Nannan Y, Yang Y, Yan W, Hao W.
europepmc   +1 more source

Prenatal diagnosis of imprinted associated chromosome abnormalities identified by noninvasive prenatal testing (NIPT). [PDF]

Sci Rep
Peng H, Wang D, Guo F, Hou Y, Hu T, Du Q, Yang J.   +6 more
europepmc   +1 more source

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Mosaicism for trisomy 21: A review

American Journal of Medical Genetics Part A, 2014
The clinical and cytogenetic findings associated with mosaicism for trisomy 21/Down syndrome are the focus of this review. The primary topics discussed in this overview of the extant literature include the history of this condition and its diagnosis, the incidence of mosaicism, the meiotic and/or mitotic chromosomal malsegregation events resulting in ...
Paulie, Papavassiliou, Chariyawan, Charalsawadi, Kelly, Rafferty, Colleen, Jackson-Cook   +3 more
openaire   +2 more sources

Discriminant functions and 21‐trisomy mosaicism

Annals of Human Genetics, 1975
A sample of 173 cases of cytogentically diagnosed 21-trisomy mosaicism, 225 cases of complete 21 trisomy and 302 normal controls were used to form discriminant functions for mosaics versus normal controls, and also for complete 21 trisomics versus normal controls; for each of these discriminants optimal sets of ten dermatoglyphic characters were ...
D, Loesch, C A, Smith
openaire   +2 more sources

Trisomy 21 Down syndrome

Human Genetics, 1985
The lymphocyte chromosomes of trisomy 21 Down syndrome patients and their parents in a random series of 374 families were analyzed, the objective being the identification of parental mosaicism. The numbers of parents in whom at least two trisomy 21 cells were detected were seven mothers and three fathers, a frequency of 2.7% of families.
I A, Uchida, V C, Freeman
openaire   +2 more sources

Acute lymphoblastic leukemia with trisomy 21 constitutional mosaicism

Cancer Genetics and Cytogenetics, 1993
Acute lymphoblastic leukemia was diagnosed in an 11-year-old girl with mild signs of Down's syndrome. She was known since birth to have a constitutional mosaicism (46,XX/47,XX,+21c). At initial diagnosis of acute leukemia, additional chromosome changes were found in bone marrow blasts: hyperdiploidy > 50, with a structural abnormality.
C, Léonard, M R, Avalos, F, Miélot, M, Poissonnier, J P, Dommergues, J, Lejeune, G, Tchernia   +6 more
openaire   +2 more sources

Transient neonatal leukemoid reactions in mosaic trisomy 21

The Journal of Pediatrics, 1984
Description de 2 cas chez des enfants suivis jusqu'a l'âge respectif de 9 mois et de 2 ans. Cela porte a 4 le nombre de ces enfants de phenotype normal porteurs d'une trisomie 21 en mosaique dont la reaction leucemoide et le pourcentage de cellules trisomiques 21 regressent progressivement et spontanement en quelques mois ou annees.
N L, Seibel, A, Sommer, J, Miser
openaire   +2 more sources