Partial monosomy of the long arm of chromosome 11 in a severely affected child.

  • 1 January 1981
    • journal article
    • case report
    • Vol. 24  (1) , 51-3
Abstract
A white female infant affected with deletion of the terminal end of the long arm of chromosome 11 (11q-) is presented. The clinical features--including trigonocephaly, epicanthal folds, coloboma of iris, prominent occiput, dysplastic ears, carp-shaped mouth, micrognathia, pectus excavalum single umbilical artery, anorectal malformation, dysplastic fifth fingers, hypoplastic nails, simian creases, hydronephrotic multicystic kidney, neutropenia, thrombocytopenia, and congenital heart anomalies--are compatible with the majority of reported cases. Clinical features observed in this patient, however, represent a much more severely affected pattern than reported in 11q- patients previously.

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