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A complex structural rearrangement of chromosome 4 in a woman without phenotypic features of Wolf‐Hirschhorn syndrome
Author(s) -
Romain D. R.,
ColumbanoGreen L. M.,
Parfitt R. G.,
Chapman C. J.,
Smythe R. H.,
Gebbie O. B.
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.tb00378.x
Subject(s) - karyotype , phenotype , chromosomal rearrangement , mentally retarded , genetics , chromosome , biology , chromosomal translocation , chromosomal inversion , gene , psychology , developmental psychology
A 32‐year‐old mentally retarded woman was found to have a complex rearrangement of one chromosome 4. Her karyotype is interpreted as 46, XX, inv(4) (pter→p14::q12→p14::q12→qter) del (4) (pter→15.33::p15.2→qter). Clinically she does not show the features of the Wolf‐Hirschhorn syndrome. Her phenotype and cytogenetic findings are compared with 2 other reported cases of 4p‐ without Wolf‐Hirschhorn syndrome.