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Cri du chat syndrome due to meiotic recombination in a pericentric inversion 5 carrier
Author(s) -
Chernos Judy E.,
Fowlow S. Boatrice,
Cox David M.
Publication year - 1992
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.1399-0004.1992.tb03679.x
Subject(s) - chromosomal inversion , karyotype , biology , genetics , meiosis , chromosome , chromosomal translocation , chromosomal rearrangement , dup , dicentric chromosome , recombination , gene duplication , gene
A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high‐pitched mewing cry characteristic of cri du chat syndrome. Chromosome studies from both peripheral blood and fibroblasts showed a 46,XX,5p–karyotype. Parental chromosome studies revealed that the mother carried an apparently balanced pericentric inversion of one chromosome no. 5, 46,XX,inv(5)(pl4q35). Meiotic crossing‐over in the mother within the inverted segment of chromosome 5 gave rise to the unbalanced karyotype, 46,XX,rec(5)dup q, inv(5)(pl4q35)mat in the infant. A small terminal segment of the long arm of chromosome 5 (q35‐pter) is duplicated with a deletion of the short arm of chromosome 5 (pl4‐pter), accounting for the features of cri du chat syndrome. Fewer than 1 in 200 of cri du chat syndrome cases are due to recombination aneusomy arising from a parental inversion of chromosome 5. Some of these cases, however, do not have typical cri du chat syndrome, reflecting significant duplication of 5q material. These cases are reviewed with the present case, and recombination behaviour leading to chromosome imbalance is discussed.