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A case of de novo interstitial deletion of chromosome 5(q33q34)
Author(s) -
Giltay Jacques C.,
GerssenSchoorl Klasien B. J.,
Luitse Gert H. J.,
Dauwerse Hans G.
Publication year - 1997
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.1399-0004.1997.tb02539.x
Subject(s) - microcephaly , locus (genetics) , genetics , fluorescence in situ hybridization , chromosome , biology , gene mapping , long arm , gene
The present paper describes a girl with a small de novo deletion of chromosome 5(q33q34). Fluorescence in situ hybridisation with locus specific probes was used to define the extent of this deletion. Clinical features in this patient are microcephaly, dysmorphic facial features such as epicanthus, small biparietal distance and retrognathia, four‐finger lines on both hands and mild mental retardation.