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De novo del(4) (p15.32) with incomplete expression of the Wolf‐Hirschhorn syndrome
Author(s) -
CastroFelix L. P.,
RamSrez M. L.,
ValeraHuezo S.,
Matute E.,
Rivas F.,
Rivera H.,
Moller M.,
Cantu J. M.
Publication year - 1986
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.1399-0004.1986.tb00518.x
Subject(s) - monosomy , genetics , biology , girl , karyotype , chromosome , gene
A 7 7/12‐year‐old girl with a de novo deletion 4p15.32→ pter without the typical Wolf‐Hirschhorn syndrome (WHS) is presented. This observation and others from medical literature suggest that monosomy 4p15.31→ 4p15. 32, rather than 4p16, is the cause of the typical WHS.