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Balanced reciprocal translocations: risk factors for aneuploid segregant viability
Author(s) -
Davis John R.,
Rogers Beverly Barton,
Hagaman Roberta M.,
Thies Cole A.,
Veomett Iris C.
Publication year - 1985
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1985.tb00179.x
Subject(s) - chromosomal translocation , biology , conceptus , aneuploidy , genetics , chromosome , meiosis , karyotype , andrology , pregnancy , gene , gestation , medicine
Reciprocal translocations were studied in two groups of balanced carrier couples: 202 had 210 translocation aneuploid liveborn (LB) infants, and 95 couples had repetitive abortions (AB) without liveborn ancuploids. The observed translocation aneuploidies in the LB group were compared to predicted potential aneuploidies in A B by frequency of chromosome involvement, meiotic segregation mode, and mean trisomic, monosomic and combined genomic imbalances. Qualitative and quantitative differences identified genomic regions and chromosomes possibly vital for in utero survivability. LB aneuploidies indicate non‐random chromosome involvement, selection of least detrimental segregants and segments, and predominant transmission from maternal balanced carriers (especially in 3:1 tertiary segregation, 93.5%). For an individual with a balanced reciprocal translocation and untested reproductive capability, an approach is given for predicting whether a translocation aneuploid conceptus will be liveborn or aborted.