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Segregation analysis of balanced pericentric inversions in pedigree data
Author(s) -
Sherman S. L.,
Iselius L.,
Gallano P.,
Buckton K.,
Collyer S.,
DeMey R.,
Kristoffersson U.,
Lindsten J.,
Mikkelsen M.,
Morton N. E.,
Newton M.,
Nordensson I.,
Petersen M. B.,
Wahlström J.
Publication year - 1986
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.1399-0004.1986.tb00575.x
Subject(s) - pedigree chart , genetics , chromosomal inversion , biology , karyotype , distortion (music) , nuclear family , offspring , chromosome , pregnancy , physics , gene , sociology , anthropology , amplifier , optoelectronics , cmos
The results of the recent European collaborative prenatal study suggested a segregation distortion of balanced pericentric inversions from carrier fathers but not carrier mothers (Boue & Gallano 1984). In an attempt to confirm these unexpected results, we examined 216 pedigrees with balanced pericentric inversions collected from three centers and from the literature. We were unable to detect any significant deviation from the expected 1:1 segregation of balanced pericentric inversions to normal karyotypes among the offspring of either carrier parent. To clarify the discrepancy between the studies, we reanalysed the data from the prenatal study using all karyotyped individuals and, assuming conventional ascertainment rules, found a normal segregation pattern. We conclude (a) that balanced pericentric inversions segregate normally in both males and females and (b) that some retrospectively selected pedigrees were included as prospective in the prenatal study and this misclassification caused the apparent segregation distortion from carrier fathers.