Results 121 to 130 of about 7,985 (170)

Mosaic derivative chromosomes at chorionic villi (CV) sampling are expression of genomic instability and precursors of cryptic disease-causing rearrangements: report of further four cases. [PDF]

Mol Cytogenet
Vitetta G, Desiderio L, Baccolini I, Uliana V, Lanzoni G, Ghi T, Pilu G, Ambrosini E, Caggiati P, Barili V, Trotta AC, Liuti MR, Malpezzi E, Pittalis MC, Percesepe A.   +14 more
europepmc   +1 more source

Inherited Unbalanced Reciprocal Translocation with 18p11.32p11.21 Tetrasomy and 9q34.3 Trisomy in a Fetus Revealed by Cell-Free Fetal DNA (cffDNA) Testing: Cytogenetic and Cytogenomic Characterization in Prenatal Diagnosis. [PDF]

Genes (Basel)
Ardisia C, De Falco L, Savarese G, Ruggiero R, Suero T, Petrillo N, Ianniello M, Sirica R, Mori A, Cino D, Barbato M, Vitiello G, Fico A.   +12 more
europepmc   +1 more source

The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review. [PDF]

J Pers Med
Militaru MS, Babliuc IM, Bloaje-Florică VL, Danci VA, Filip-Deac I, Kutasi E, Simon V, Militaru M, Cătană A.   +8 more
europepmc   +1 more source

Complex genomic rearrangements of the Y chromosome in a premature infant. [PDF]

Mol Cytogenet
Balow SA, Coyan AG, Smith N, Russell BE, Monteil D, Hopkin RJ, Smolarek TA.   +6 more
europepmc   +1 more source

Detection of a disomy X cell line in uncultured amniocytes by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy cultured amniocytes and uncultured amniocytes and a favorable fetal outcome

Taiwanese Journal of Obstetrics and Gynecology
openaire   +3 more sources

Reversed cortico-medullary differentiation in kidneys on fetal magnetic resonance imaging - a case series. [PDF]

Pediatr Nephrol
Bekiesinska-Figatowska M, Madzik J, Ring M, Skorka A, Smyk M, Obersztyn E.   +5 more
europepmc   +1 more source

The Asymmetric Threat of Maternal Cell Contamination in Prenatal Single-Gene Testing. [PDF]

Diagnostics (Basel)
Li M, Song J, Sun K, Chang J, Yin K, Yang X, Lv Y, Jiang Y, Hao N.   +8 more
europepmc   +1 more source

Prenatal diagnosis and genetic counseling of a de novo 10q11.21q11.23 duplication associated with a normal phenotype. [PDF]

J Int Med Res
Ouyang L, Li Y, Liu F, Zeng Q.
europepmc   +1 more source

Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose? [PDF]

BMC Pregnancy Childbirth
Cong X, Zhang T, Li Z, Luo X, Hu L, Liu W.   +5 more
europepmc   +1 more source

Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis. [PDF]

Int J Womens Health
Chen S, Liang B, Lin N, Pan M, Li L.
europepmc   +1 more source