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Deletion of chromosome 1p: a short review
Author(s) -
Howard P. J.,
Porteus M.
Publication year - 1990
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.1399-0004.1990.tb03489.x
Subject(s) - clinodactyly , genetics , phenotype , breakpoint , biology , chromosome , facial dysmorphism , karyotype , gene
A further patient with a deletion of lp is described, bringing the number of reported cases to 13. The cytogenetic derivation of the deletions and the clinical phenotype are reviewed. The range of breakpoints and small number of cases result in no clearly defined phenotype. Facial dysmorphism, clinodactyly of the fifth finger, mental retardation and heart defects are, however, most frequently described, with a high‐arched palate, in particular, seen in deletions distal to P34.