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Disomic balanced reciprocal translocation
Clinical Genetics, 1990The previously unreported and unique finding of a complete disomy of an apparently balanced reciprocal translocation is described. The parents are second cousins once removed and each parent contributed the same balanced reciprocal translocation chromosome. Although the complete disomy involves balanced translocation chromosomes from unaffected parents,
P L, Wilmot +2 more
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Autosomal Reciprocal Translocations
2018Abstract This chapter reviews in detail the question of carriers of autosomal reciprocal translocations and the genetic risks implied for potential offspring of theirs. Examples are put forward of the various possibilities due to malsegregation in gametes of theirs: adjacent-1, adjacent-2, 3:1, and the (very rare) 4:0 malsegregation ...
R. J McKinlay Gardner, David J Amor
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Reciprocal Translocations in Pisum
Nature, 1950SOME years ago I published an analysis of structurally changed types of Pisum sativum based on cytological observations1. One of these, structural type four which had arisen in the variety Extra Rapid, was reported as having chromosomes 3 and 5 interchanged, according to my notation.
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Reciprocal translocation and the Philadelphia chromosome
Human Genetics, 1978We examined metaphases from three patients with chronic myeloid leukaemia and a typical Philadelphia chromosome with one chromosome 9 as the recipient to determine whether the 9q+22q- translocation is reciprocal. Good quality G-banded photographs of the chromosomes concerned were subjected to light absorption density analysis.
J L, Watt, B M, Page
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“Understanding Adam” Multiple Reciprocal Translocations
Journal of Perinatal & Neonatal Nursing, 2009This article presents a case review of a newborn diagnosed with a complex chromosomal rearrangement, as demonstrated through a painted chromosomal analysis. This infant presented with multiple dysmorphology including cutis aplasia, multiple ocular malformations, bilateral cleft lip and palate, and postnatal hydrocephaly. A chromosomal analysis revealed
Carie E, Linder +4 more
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Autosomal Reciprocal Translocations
2011Abstract RECIPROCAL TRANSLOCATIONS ARE COMMON, and every counselor can expect to see translocation families. The usual form is the simple, or two-way, reciprocal translocation: only two chromosomes, usually autosomes, are involved, with one breakpoint in each. It is this category we consider in this chapter.
R. J. McKinlay Gardner +2 more
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Balanced reciprocal translocation mosaicism: How frequent?
American Journal of Medical Genetics, 1995AbstractWe describe 2 cases of balanced reciprocal translocation (BRT) mosaicism. The frequency of this aberration in the population referred to our laboratory was determined and compared to those frequencies reported in the literature by other clinical cytogenetics laboratories.
K E, Opheim +3 more
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Segregation analysis in reciprocal translocation carriers
American Journal of Medical Genetics, 1984AbstractSegregation analysis of the offspring of balanced translocation carriers was performed on 327 pedigrees collated from published sources and personal communications. Correction was made for bias of ascertainment. Translocations studied involved chromosome arms 1p, 4q, 6p, 6q, 7p, 8p, 10p, 10q, 11q, 14q, 16q, and 17p.
D L, Petrosky, D S, Borgaonkar
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Reciprocal or nonreciprocal human chromosome translocations?
Human Genetics, 1977Two carriers of a balanced translocation, one paternal t(9q-;13p+) and one maternal t(3q-;15p+), were studied cytogenetically with selective silver staining to localize more precisely the break points on the short arms of the two acrocentric chromosomes involved.
I, Hansmann +3 more
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