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Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype
Author(s) -
Khalifa M. M.,
MacLeod P. M.,
Duncan A. M. V.
Publication year - 1993
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.1399-0004.1993.tb03893.x
Subject(s) - phenotype , genetics , biology , long arm , chromosome , microbiology and biotechnology , gene
Khalifa MM, MacLeod PM, Duncan AMV. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 1993: 44: 258–261. © Munksgaard, 1993 A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.