PGD for a carrier of an intrachromosomal insertion using aCGH

Jones, Claire; Kolomietz, Elena; Maire, Georges; Vlasschaert, Matthew; Joseph-George, Ann M.; Myles-Reid, Diane; Chitayat, David; Arthur, Rebecca

doi:10.3109/19396368.2014.962710

Cited by 4 publications

(2 citation statements)

References 33 publications

(55 reference statements)

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“…A search of the literature using the PubMed database and the keywords "duplication 4p" OR "trisomy 4p" OR "syndrome 4p" OR "duplication 1q" OR "trisomy 1q" OR "syndrome 1q" OR "complex chromosomal rearrangements", and a search of the Genome Browser database and the DECIPHER platform, found no case with the same set of alterations. However, recombinants with duplications or deletions arising from intra-chromosomal insertions as a result of a crossover in the interstitial or the inserted segment have been well documented for most chromosomes, including chromosome 1 [Madan and Menko, 1992;Jones et al, 2014;Silipgni et al, 2017]. The clinical features are summarized in Table 1.…”

Section: Discussionmentioning

confidence: 99%

An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son

Campos

Rosenberg²,

Krepischi

et al. 2021

Mol Syndromol

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Duplication of the distal 1q and 4p segments are both characterized by the presence of intellectual disability/neurodevelopmental delay and dysmorphisms. Here, we describe a male with a complex chromosome rearrangement (CCR) presenting with overlapping clinical findings between these 2 syndromes. In order to better characterize this CCR, classical karyotyping, FISH, and chromosomal microarray analysis were performed on material from the patient and his parents, which revealed an unbalanced karyotype with duplications at 1q41q43 and 4p15.2p14 in the proband. The rearrangements, which were derived from a maternal balanced karyotype, included an insertion of a segment from the long to the short arm of chromosome 1, a balanced translocation involving chromosomes 14 and 18, and an insertion of a segment from the short arm of chromosome 4 into the derived chromosome 14. This study aimed to better define the clinical history and prognosis of a patient with this rare category of chromosomal aberration. Our results suggest that the frequency of CCR in the general population may be underestimated; when balanced, they may not have a phenotypic effect. Moreover, they emphasize the need for cytogenetic techniques complementary to chromosomal microarray for proper genetic counseling.

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Section: Discussionmentioning

confidence: 99%

An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son

Campos

Rosenberg²,

Krepischi

et al. 2021

Mol Syndromol

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“…Preimplantation genetic diagnosis (PGD) involves the biopsy of oocyte polar bodies or embryonic cells, and it has become a routine clinical procedure in many in vitro fertilization (IVF) clinics worldwide. 7 It is extremely helpful for parents who are known carriers of chromosomal abnormalities or single gene disorders because unaffected embryos can be chosen for uterine transfer. 8 PGD is performed at the following three stages of embryo development: oocyte polar body biopsy before and after fertilization, blastomere biopsy at the cleavage stage, and trophectoderm (TE) tissue biopsy at the blastocyst stage.…”

Section: Introductionmentioning

confidence: 99%

Medium-Based Noninvasive Preimplantation Genetic Diagnosis for Human α-Thalassemias-SEA

Ding

Shen

et al. 2015

Medicine

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To develop a noninvasive medium-based preimplantation genetic diagnosis (PGD) test for α-thalassemias-SEA.The embryos of α-thalassemia-SEA carriers undergoing in vitro fertilization (IVF) were cultured. Single cells were biopsied from blastomeres and subjected to fluorescent gap polymerase chain reaction (PCR) analysis; the spent culture media that contained embryo genomic DNA and corresponding blastocysts as verification were subjected to quantitative-PCR (Q-PCR) detection of α-thalassemia-SEA. The diagnosis efficiency and allele dropout (ADO) ratio were calculated, and the cell-free DNA concentration was quantitatively assessed in the culture medium.The diagnosis efficiency of medium-based α-thalassemias–SEA detection significantly increased compared with that of biopsy-based fluorescent gap PCR analysis (88.6% vs 82.1%, P < 0.05). There is no significant difference regarding ADO ratio between them. The optimal time for medium-based α-thalassemias–SEA detection is Day 5 (D5) following IVF.Medium-based α-thalassemias–SEA detection could represent a novel, quick, and noninvasive approach for carriers to undergo IVF and PGD.

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Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy

Ren

Zhi

Zhu

et al. 2016

Journal of Genetics and Genomics

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PGD for a carrier of an intrachromosomal insertion using aCGH

Cited by 4 publications

References 33 publications

An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son

An Apparently Balanced Complex Chromosome Rearrangement Involving Seven Breaks and Four Chromosomes in a Healthy Female and Segregation/Recombination in Her Affected Son

Medium-Based Noninvasive Preimplantation Genetic Diagnosis for Human α-Thalassemias-SEA

Clinical applications of MARSALA for preimplantation genetic diagnosis of spinal muscular atrophy

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