scholarly journals De novo balanced reciprocal translocation t(2;3)(q31;q27) in a fetus conceived using PGD in a t(2;14)(q35;q32.1) balanced reciprocal translocation carrier mother

2017 ◽  
Vol 5 (6) ◽  
pp. 841-844
Author(s):  
Ji Won Kim ◽  
Sung Han Shim ◽  
Woo Sik Lee
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Translocation Carrier ◽  
Carrier Mother

The progeny of homozygous identical reciprocal translocation carrier mother

2010 ◽  
Vol 152A (11) ◽  
pp. 2886-2887
Author(s):  
Altug Koç ◽  
Sefik Guran ◽  
Muhterem Bahce
Keyword(s):  
Reciprocal Translocation ◽  
Translocation Carrier ◽  
Carrier Mother

scholarly journals Diagnosis of De Novo Mosaic Balanced Translocation t(1;3)(q42;q25) in a Fetus Conceived Using Pre-implantation Diagnosis Due to Presence in the Father of a Different Balanced Translocation

2021 ◽  
Author(s):  
Shaoqin Zhang ◽  
jianjiang zhu ◽  
Hong Qi ◽  
Limei Xu ◽  
Lirong Cai ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Psychomotor Development ◽  
Premature Delivery ◽  
Driving Mechanism ◽  
Balanced Translocation ◽  
Translocation Carrier ◽  
Reciprocal Translocations ◽  
Str Analysis

Abstract IntroductionPreimplantation genetic testing (PGT) had widely been applied in reciprocal translocation carriers to improve the clinical outcome of assisted reproduction. De novo mosaicism balanced reciprocal translocations in fetus conceived using PGT from a balanced translocation carrier parent has been rarely reported, and the driving mechanism is not clearly. MethodsChromosomal microarray analysis (CMA) , karyotype analysis and fluorescent in situ hybridization (FISH) were performed to verify the type and heredity of the rearrangement. STR analysis was used to identify potential contamination as well as kinship verification and identification. ResultsA rare de novo mosaicism balanced reciprocal translocation t(1,3)(q42;q25) in fetus conceived using PGT-SR from a t(12;14)(q22;q13) balanced translocation carrier father was been diagnosed by multiplatform genetic techniques. At 31 weeks and 2 days of gestation, premature delivery was caused by uncontrollable uterine contractions. At the 21-months follow up, infant has achieved all psychomotor development milestones as well as growth within the normal reference range. ConclusionPGT cases still need close observation in prenatal diagnosis and long-term follow-up.

scholarly journals De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Shaoqin Zhang ◽  
Jianjiang Zhu ◽  
Hong Qi ◽  
Limei Xu ◽  
Lirong Cai ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Reciprocal Translocation ◽  
De Novo ◽  
Psychomotor Development ◽  
Chromosomal Microarray Analysis ◽  
Driving Mechanism ◽  
Balanced Translocation ◽  
Translocation Carrier ◽  
Preimplantation Genetic Testing ◽  
Reciprocal Translocations

Abstract Introduction De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Methods Chromosomal microarray analysis, karyotype analysis and fluorescent in situ hybridization were performed to verify the type and heredity of the rearrangement. STR analysis was conducted to identify potential contamination and verify kinship. In addition, a local BLAST engine was performed to locate potentially homologous segments which might contribute to the translocation in breakpoints of chromosome. Results A rare de novo balanced reciprocal translocations mosaicism mos 46,XY,t(1;3)(q42;q25)[40]/46,XY[39] was diagnosed in a fetus conceived using preimplantation genetic testing due to a 46,XY,t(12;14)(q22;q13) balanced translocation carrier father through multiplatform genetic techniques. Two of the largest continuous high homology segments were identified in chromosomal band 1q42.12 and 3q25.2. At the 21-months follow up, infant has achieved all psychomotor development milestones as well as growth within the normal reference range. Conclusion We present a prenatal diagnosis of a rare de novo balanced reciprocal translocations mosaicism in a fetus who conceived by preimplantation genetic testing. The most reasonable driving mechanism was that a de novo mitotic error caused by nonallelic homologous recombination between 1q42.12 and 3q25.2 in a zygote within the first or early cell divisions, which results in a mosaic embryo with the variant present in a half proportion of cells.

scholarly journals Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

1992 ◽  
Vol 29 (4) ◽  
pp. 251-252 ◽  
Author(s):  
I D Young ◽  
J M Zuccollo ◽  
E L Maltby ◽  
N J Broderick
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Campomelic Dysplasia

Azoospermia Due to a Unique De Novo Balanced Reciprocal Translocation (Y;1) (q12;q25)

2007 ◽  
Vol 28 (5) ◽  
pp. 647-651 ◽  
Author(s):  
M. Braun-Falco ◽  
W. Schempp ◽  
C. Nevinny-Stickel-Hinzpeter ◽  
F.-M. Kohn
Keyword(s):  
Reciprocal Translocation ◽  
De Novo

scholarly journals De novo simultaneous reciprocal translocation and deletion.

1978 ◽  
Vol 15 (2) ◽  
pp. 152-154 ◽  
Author(s):  
K Fries ◽  
G Mundel ◽  
M Rosenblatt
Keyword(s):  
Reciprocal Translocation ◽  
De Novo

A de novo unbalanced reciprocal translocation identified as paternal in origin in the Prader-Willi syndrome

1991 ◽  
Vol 86 (5) ◽  
Author(s):  
A. Smith ◽  
R. Lindeman ◽  
F. Volpato ◽  
A. Kearney ◽  
S. White ◽  
...  
Keyword(s):  
Reciprocal Translocation ◽  
De Novo ◽  
Prader Willi Syndrome
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