Characterization of a balanced complex chromosomal rearrangement carrier ascertained through a fetus with dup15q26.3 and del5p15.33: case report

@article{Lled2013CharacterizationOA,
  title={Characterization of a balanced complex chromosomal rearrangement carrier ascertained through a fetus with dup15q26.3 and del5p15.33: case report},
  author={Bel{\'e}n Lled{\'o} and José Antonio Ortiz and Ruth Morales and Irene Manch{\'o}n and Francisco Gal{\'a}n and Andrea Bernabeu and Rafael Bernabeu},
  journal={Human Fertility},
  year={2013},
  volume={16},
  pages={215 - 217}
}
Abstract Complex chromosomal rearrangements (CCRs) are structural aberrations involving more than two chromosomes which rarely appear in individuals with normal phenotypes. These individuals report fertility problems, recurrent miscarriages, or congenital anomalies in newborn offspring as a consequence of either meiotic failure or imbalanced chromosome segregation. A CCR involving chromosomes 5, 15, and 18 was discovered in a phenotypically normal man through a fetus with congenital… 
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Characterization of a complex chromosomal rearrangement using chromosome, FISH, and microarray assays in a girl with multiple congenital abnormalities and developmental delay
TLDR
It is postulate that microdeletion within the ROBO1 gene at 3p12.3 may have played a role in the patient’s developmental delay, since it has potential activity-dependent role in neurons.
Identification of a balanced complex chromosomal rearrangement involving chromosomes 3, 18 and 21 with recurrent abortion: case report
TLDR
A new familial case of complex chromosome structural aberrations involving chromosomes 3, 18 and 21 and four breakpoints is reported, providing an explanation of recurrent abortion and abnormal child for balanced CCR carriers.
Characterization of a complex chromosomal rearrangement involving chromosomes 1, 3, and 4 in a slightly affected male with bad obstetrics history
TLDR
An adult male with minor facial dysmorphism, speech impairment, and a history of previous unsuccessful pregnancy in the partnership is presented and a CCR with cryptic imbalances of about 1.5 megabase pairs was identified.
Clinical outcomes in carriers of complex chromosomal rearrangements: a retrospective analysis of comprehensive chromosome screening results in seven cases.
Microarray findings in pregnancies with oligohydramnios – a retrospective cohort study and literature review
TLDR
There is yet insufficient evidence to support invasive prenatal testing in pregnancies with isolated oligohydramnios, and the risk for abnormal chromosomal microarray analysis (CMA) findings in pregnancy with oligohydramsnios is explored.

References

SHOWING 1-10 OF 12 REFERENCES
Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report
TLDR
Application of M-FISH and SNP-array analysis to apparently balanced CCRs is useful to delineate the complex chromosomal rearrangement in detail, however, it does not always identify cryptic imbalances as an explanation for the abnormal phenotype in patients with a CCR.
Preimplantation genetic diagnosis for complex chromosome rearrangements
TLDR
Different approaches for PGD of CCRs are described, showing that preimplantation genetic diagnosis has been shown to significantly reduce the risk of repeated pregnancy loss in translocation carriers, and thus it is well indicated for CCR.
Complex chromosomal rearrangements: origin and meiotic behavior.
TLDR
Despite the increasing understanding of the mechanisms involved in their genesis, CCRs arise as unique, complex events for which the genetic and reproductive counseling of carriers remains a challenge.
15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q
TLDR
Support is provided for a distinct “15q overgrowth syndrome” caused by either trisomy or tetrasomy resulting in increased dosage of distal 15q and it is proposed that renal anomalies and a distinctive facial appearance be considered major features of this condition.
Complex chromosome rearrangements:Report of a new case and literature review
TLDR
A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described, the first such instance to be recorded.
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay
TLDR
A large cohort of subjects with copy number alteration of BP1 to BP2 with common phenotypic features including autism, developmental delay, motor and language delays, and behavioral problems are presented, which were present in both cytogenetic groups.
Chromosome Abnormalities and Genetic Counselling
The third edition of this cornerstone reference book still serves its major purposes admirably: to assist the genetic counsellor in the interpretation and explanation of chromosome abnormalities in…
Microdeleción 15q11.2 (BP1-BP2). Un nuevo síndrome con expresividad variable
Microdeleci ó n 15 q 11 . 2 ( BP 1 - BP 2 ) . Un nuevo s í ndrome con expresividad variable
  • Anales de Pediatr í a
  • 2011
Un nuevo s í ndrome con expresividad variable
  • Anales de Pediatr í a
  • 2011
...
1
2
...