Results 31 to 40 of about 3,485 (190)
Taiwanese Journal of Obstetrics & Gynecology, 2014 Objective: The presence of reciprocal and Robertsonian chromosomal rearrangement is often related to recurrent miscarriage. Using preimplantation genetic diagnosis, the abortion rate can be decreased. Cases treated at our center were reviewed.
Chun-Kai Chen +9 more
doaj +1 more source
Premature ovarian failure in a woman with a balanced 15;21 translocation: a case report
Journal of Medical Case Reports, 2011 Introduction A case of premature ovarian failure with concomitant findings of Robertsonian translocation between 15 and 21 chromosomes is reported here.
Asgari Zahra +3 more
doaj +1 more source
Familial reciprocal non robertsonian translocation t(14;22) resulting in 22q11.2 deletion syndrome
The Turkish Journal of Pediatrics, 2019 We report the clinical and genetic characterization of 2 cousins sharing the same chromosomal anomaly; a 22pter-q11.2 deletion and a 14pter-q13 duplication due to an unusual familial reciprocal non robertsonian translocation between 2 acrocentric ...
Nahla Nazmy +3 more
doaj +1 more source
Prevalence and Phenotypic Impact of Robertsonian Translocations [PDF]
Molecular Syndromology, 2021 Robertsonian translocations (RTs) result from fusion of 2 acrocentric chromosomes (e.g., 13, 14, 15, 21, 22) and consequential losses of segments of the p arms containing 47S rDNA clusters and transcription factor binding sites. Depending on the position of the breakpoints, the size of these losses vary considerably between types of RTs. The prevalence
Hochstenbach, PFR, Poot, Martin
openaire +3 more sources
Emanuel Syndrome: A Case Report With Isolated Nuchal Translucency Thickening. [PDF]
Case Rep GenetIntroduction Emanuel syndrome is a rare chromosomal disorder characterized by severe developmental disability and variable clinical manifestations. Although congenital anomalies are relatively common, there is no pathognomonic prenatal pattern. In some cases, structural defects are absent or not detectable prenatally, making the potential role of soft ...
Maya B +5 more
europepmc +2 more sources
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 +3 more
doaj
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 +3 more
doaj +1 more source
Various endocrine disorders in children with t(13;14)(q10;q10) Robertsonian translocation [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2013 Purpose45,XY,t(13;14)(q10;q10) karyotype can suggest infertility associated with more or less severe oligospermia in male adults. In addition, 45,XX,t(13;14)(q10;q10) karyotype carries reproductive risks such as miscarriage or infertility in female ...
Byung Ho Choi +3 more
doaj +1 more source
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 +10 more
doaj +1 more source
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. +4 more
doaj +1 more source