Results 51 to 60 of about 7,045,534 (115)

Difficult diagnosis and management of an heterokaryotypic monochorionic twin pregnancy with discordant fetal sex and 45,X/47,XYY karyotypes.

, 2010
International audienceWe report twins for whom ultrasound examinations revealed a Turner syndrome in the female fetus and a normal male fetus. A selective pregnancy termination was decided on the female fetus with hydrops.
Karine Bages, Caroline Bohec, Pascale Marcorelles, Rémi Tetefort, Frederic Morel, Michel Collet, Morel, Frédéric, Collet, Michel, Tetefort, Rémi, Audrézet, Marie-Pierre, Douet-Guilbert, Nathalie, Marc De Braekeleer, Bohec, Caroline, Le Bris, Marie-Josée, Marcorelles, Pascale, Marie-Pierre Audrézet, Marie-Josée Le Bris, Basinko, Audrey, Bages, Karine, Audrey Basinko, de Braekeleer, Marc, Nathalie Douet-Guilbert   +21 more
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45,X / 47,XYY Mosaic Turner Syndrome

, 2000
45,X/47,XYY mosaicism is a rare sex chromosomal disorder with clinical information limited to 25 cases in the literature. We report an unusual mosaic Turner syndrome case in a 35-year old Korean woman with a phenotypic female, primary amenorrhea, short ...
배상욱, 김세광
core  

Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists. [PDF]

J Med Genet, 1996
Mutton D, Alberman E, Hook EB.
europepmc   +1 more source

A new case with coexistence of mosaic 48,XYYY/47,XYY, and CACNA1E variant in autism spectrum disorder

Autism spectrum disorder (ASD) is a genetically heterogeneous neurobehavioral disorder. The etiology and the inheritance pattern are usually multifactorial.
Seven, Mehmet, Ağırbaşlı, Deniz, Kalaycı, Aysel, Alay, Mustafa Tarik, Tarakcioglu, Mahmut Cem, Serdengecti, Nihal   +5 more
core   +1 more source

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases. [PDF]

Mol Cytogenet, 2011
Park SJ, Jung EH, Ryu RS, Kang HW, Ko JM, Kim HJ, Cheon CK, Hwang SH, Kang HY.   +8 more
europepmc   +1 more source

ChASM: a statistically rigorous method for the detection of chromosomal aneuploidies in ancient DNA studies. [PDF]

Bioinformatics
Rohrlach AB, Tuke J, Prüfer K, Haak W.
europepmc   +1 more source

Implications of sperm chromosome abnormalities in recurrent miscarriage. [PDF]

J Assist Reprod Genet, 1999
Rubio C, Simón C, Blanco J, Vidal F, Mínguez Y, Egozcue J, Crespo J, Remohí J, Pellicer A.   +8 more
europepmc   +1 more source

A retrospective analysis of 6942 amniocentesis cases. [PDF]

BMC Pregnancy Childbirth
An Q, Huang Y, Yu F, Tao Y, Li J, Li X.
europepmc   +1 more source

Constitution of semen samples from XYY and XXY males as analysed by in situ hybridization

, 1996
A brightfield microscopical in-situ hybridization (ISH) technique was applied to semen samples of two 47,XYY males, one 46,XY/47,XXY male with fertility problems, and two normal 46,XY men, who served as controls.
Land, Jolande J.A., Liebaers, Ingeborg, Geraedts, Joep Pm M, Ramaekers, Frans Cs S, Hopman, Anton Hn N, Martini, Elena, Capitanio, Giovanni Luigi   +6 more
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Evaluation the Application of Karyotype Analysis and Chromosome Microarray in Prenatal Diagnosis. [PDF]

Iran J Public Health
Li H, Li Y, Zhang Y, Zhu J, Huang Y.
europepmc   +1 more source