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A new interstitial deletion of chromosome No. 4 del(4) (q22::q25)
Author(s) -
Butler L. J.,
Palmer A. V.,
Spencer T.,
TabiosBroadway R.,
Wall W. J.
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.tb02796.x
Subject(s) - frontal bossing , polydactyly , dermatoglyphics , genetics , biology , dysostosis , chromosome , karyotype , anatomy , medicine , congenital disease , gene
A female child is described with multiple anomalies including epicanthus, frontal bossing, short sternum, Polydactyly, cleft of the larynx, renal cysts, and unusual dermatoglyphics. She died aged 3 months and was found to have a unique de novo deletion of chromosome No. 4 (q22 ‐ q25). This case is compared with other long arm deletions of 4q and reference made to assignment of genetic markers to chromosome No. 4.