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Inv(4)(p16q21). A five‐generation pedigree with 24 carriers and no recombin ants
Author(s) -
Rivas Fernando,
GarciaEsquivel Lidia,
Rivera Horacio,
Jiménez Martha Estela,
González Rosa María,
Cantú José María
Publication year - 1987
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.1399-0004.1987.tb02776.x
Subject(s) - genetics , biology , daughter , offspring , chromosomal inversion , chromosome , breakpoint , karyotype , evolutionary biology , gene , pregnancy
A familial inv(4)(p16q21) ascertained through a woman who had a thanatophoric dwarf daughter and two abortions is presented. She and 23 other relatives were carriers, but no recombinants were found. The proportion of abortions and neonatal deaths in carriers' offspring was similar to that in non‐carriers. A random segregation of the inverted chromosome was observed. The analysis of the present and previous familial chromosome 4 pericentric inversions indicates that: a) the breakpoint in q, with a limit between q21 and q25 determines the occurrence of inherited unbalances, and b) most recombinant chromosomes have duplication of the larger distal segment.