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De novo interstitial deletion 16(q12. 1q13) of paternal origin in a 10‐year‐old boy
Author(s) -
Schuffenhauer Simone,
Callen David F.,
Seidel Heide,
Shen Yang,
Lederer Gabriele,
Murken Jan
Publication year - 1992
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.1399-0004.1992.tb03249.x
Subject(s) - genetics , phenotype , biology , imprinting (psychology) , long arm , chromosome , microsatellite , microbiology and biotechnology , gene , allele
A 10‐year‐old boy with a de novo del(16)(q12.1q13) and many features of the deletion 16q phenotype is described. The deletion occurred in a paternal chromosome as demonstrated by DNA studies with polymorphic (AC)n microsatellite repeat markers. Comparison with published cases suggests that deletion of either of two regions (q13 and q22.1) on the long arm of chromosome 16 is associated with an apparently identical phenotype. No parental imprinting of this region was demonstrated.