Results 51 to 60 of about 226,802 (259)

A System to Study Aneuploidy In Vivo [PDF]

, 2018
Aneuploidy, an imbalanced chromosome number, is associated with both cancer and developmental disorders such as Down syndrome (DS). To determine how aneuploidy affects cellular and organismal physiology, we have developed a system to evaluate aneuploid ...
Amon, Angelika B, Pfau, Sarah Jeanne
core   +1 more source

Preimplantation genetic diagnosis : evaluation of results and experiences [PDF]

, 2015
Preimplantation genetic diagnosis (PGD) is an established alternative for couples at high risk of having an affected child, with the advantage that the genetic testing is performed at the embryo stage and the couple can thereby avoid a pregnancy ...
Haapaniemi Kouru, Katarina
core   +1 more source

A 15;15 Translocation in a couple with Repeated Abortions: Case report [PDF]

Journal of Research in Applied and Basic Medical Sciences, 2020
Carriers of structural chromosomal rearrangements such as Robertsonian or reciprocal translocations have an increased risk of spontaneous abortion and producing offspring with genetic abnormalities.
Aazam Ahmadi shadmehri, Javad Tavakkoly Bazzaz, Mojtaba Darbouy, Mohammad Amin Tabatabaiefar   +3 more
doaj  

Non- Disjunction of Chromosome 21 in the Young Mother at Conception [PDF]

Pediatric Sciences Journal, 2022
Background: Maternal age influences the type of chromosomal anomaly in Down syndrome. The older age is associated with non-disjunction while the younger age is associated with translocation of chromosome 21. Aim of the Work: To study the cytogenetics of
Hala Ahmed ElGindy, Magd Ahmed Kotb, Mohamed Farouk Mohamed, Walaa Alsharany Abuelhamd, Nahed Naguib Alsabagh, Nancy Anis, Aly Elkazaz   +6 more
doaj   +1 more source

Особенности мейотической сегрегации хромосом 13 и 14 у гетерозиготных носителей робертсоновской транслокации der(13;14)(q10;q10) [PDF]

, 2014
Представлены результаты исследования особенностей мейотической сегрегации хромосом 13 и 14 в сперматозоидах пяти гетерозиготных носителей робертсоновской транслокации der(13;14) методом флюоресцентной гибридизации in situ.
Билько, Н.М., Зукин, В.Д., Пилип, Л.Я., Спиненко, Л.А.   +3 more
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Risk estimation of uniparental disomy of chromosome 14 or 15 in a fetus with a parent carrying a non‐homologous Robertsonian translocation. Should we still perform prenatal diagnosis?

Prenatal Diagnosis, 2019
Uniparental disomy (UPD) testing is currently recommended during pregnancy in fetuses carrying a balanced Robertsonian translocation (ROB) involving chromosome 14 or 15, both chromosomes containing imprinted genes.
K. Moradkhani, L. Cuisset, P. Boisseau, Olivier Pichon, M. Lebrun, Houda Hamdi-Rozé, M. Maurin, N. Gruchy, Marie-Christine Manca-Pellissier, P. Malzac, F. Bilan, M. Audrézet, P. Saugier-Veber, Anne-Laure Fauret-Amsellem, C. Missirian, P. Kuentz, G. Egéa, A. Guichet, I. Creveaux, Caroline Janel, I. Harzallah, R. Touraine, C. Goumy, N. Joyē, J. Puechberty, E. Haquet, S. Chantot-Bastaraud, S. Schmitt, P. Gosset, B. Duban‐Bedu, B. Delobel, P. Vago, F. Vialard, D. Molina Gomes, J. Siffroi, J. Bonnefont, J. Dupont, P. Jonveaux, M. Doco‐Fenzy, D. Sanlaville, C. Le Caignec   +40 more
semanticscholar   +1 more source

X monosomy and balanced Robertsonian translocation in a girl with Turner Syndrome

Genetics and Molecular Biology, 2006
We describe a case of X monosomy associated with a maternally inherited t(13;14) Robertsonian translocation in a girl with Turner syndrome. The girl's X chromosome was demonstrated to be maternally inherited, ruling out the hypothesis that the ...
Aline Lourenço da Silva, Renata LL Ferreira de Lima, Lucilene Arilho Ribeiro, Danilo Moretti-Ferreira   +3 more
doaj   +1 more source

A family case of fertile human 45,X,psu dic(15;Y) males [PDF]

, 2006
We report on a familial case including four male probands from three generations with a 45,X,psu dic(15;Y)(p11.2;q12) karyotype. 45,X is usually associated with a female phenotype and only rarely with maleness, due to translocation of small Y chromosomal
Andersson M, Baumstark A, Buonadonna AL, C.S. Nagarajappa, Callen DF, Charchar FJ, Fracarro M, Freije D, Gal A, Haaf T, Hsu TC, I. Hansmann, I. Palaniappan, Koiffmann CP, Ma NS, Maserati E, Matthey R, N. Chandra, P.M. Gopinath, R. Wimmer, Ried T, Schempp W, Schiebel K, Schmid M, Siffroi JP, Subrt I, Tiemeier DC, W. Schempp, Weber B, White LM   +29 more
core   +1 more source

THE INCIDENCE AND TYPE OF CHROMOSOMAL TRANSLOCATIONS FROM PRENATAL DIAGNOSIS OF 3800 PATIENTS IN THE REPUBLIC OF MACEDONIA

Balkan Journal of Medical Genetics, 2013
Robertsonian and reciprocal chromosomal translocations are the most frequent type of structural chromosomal aberrations in the human population. We report the frequency and type of detected translocations in 10 years of prenatal diagnosis of 3800 ...
Vasilevska M., Ivanovska E., Kubelka Sabit K., Sukarova-Angelovska E., Dimeska G.   +4 more
doaj   +1 more source

Unbalanced and Balanced Acrocentric Rearrangements Involving Chromosomes Other Than Chromosome 21 at Amniocentesis

Taiwanese Journal of Obstetrics & Gynecology, 2009
Objective: To investigate unbalanced and balanced acrocentric rearrangements involving chromosomes other than chromosome 21 at amniocentesis. Materials and Methods: From January 1987 to September 2009, 31,194 amniocenteses were performed at Mackay ...
Chih-Ping Chen, Schu-Rern Chern, Pei-Chen Wu, Fuu-Jen Tsai, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Li-Feng Chen, Meng-Shan Lee, Chen-Wen Pan, Wayseen Wang   +10 more
doaj   +1 more source