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Chromosome 3p25 deletion in mother and daughter with minimal phenotypic effect
Author(s) -
Takagishi Jennifer,
Rauen Katherine A.,
Drumheller Timothy,
Kousseff Boris,
Sutcliffe Maxine
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31325
Subject(s) - microcephaly , daughter , genetics , phenotype , hypotonia , ptosis , biology , evolutionary biology , gene , pharmacology
3p25 deletion syndrome is characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia. Of the 42 persons with this deletion syndrome cited in the literature, only 2 patients, a mother–daughter pair, have previously been reported without apparent clinical consequence. We present a second mother–daughter dyad with a terminal 3p25.3–3pter deletion, who present with only mild clinical effects. In addition to cytogenetic analysis, array CGH was performed to determine the breakpoints at the molecular level. Our data show that the 3p25 deletion syndrome may, therefore, reflect a much broader phenotypic spectrum than previously recognized. © 2006 Wiley‐Liss, Inc.