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Partial trisomy 11q due to paternal t(11q;18p); further delineation of the clinical picture
Author(s) -
France H. F. de,
Beemer F. A.,
Senders R. Ch.,
Gerards L. J.,
Cats B. P.
Publication year - 1984
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.1399-0004.1984.tb01992.x
Subject(s) - trisomy , partial trisomy , genetics , medicine , biology , chromosome , karyotype , gene
We describe an eleven‐months‐old girl with a partial trisomy 11q due to a paternal t(11;18)(q142;p14131). Clinical symptoms include severe psychomotor retardation, microcephaly, cleft palate, large, beaked nose, micrognathia, short hands and proximally placed thumbs. Moreover, a partial agenesis of the callosal body and a perineal mid‐line malformation are present. The clinical picture of the index case is compared with relevant findings in patients with a partial trisomy (11 q) and partial monosomy (18p) (Aksu 1977).