Open AccessA family with a chromosome 14 short arm deletion
Author(s) -
NIELSEN J.,
HREIDARSSON A. B.,
BRYNJOLFSSON T.,
HOLM V.,
MADSEN A. M.,
PETERSEN G. B.,
LAMM L.,
SALDANAGARCIA P.
Publication year - 1978
Publication title -
hereditas
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.819
H-Index - 50
eISSN - 1601-5223
pISSN - 0018-0661
DOI - 10.1111/j.1601-5223.1978.tb01609.x
Subject(s) - centimorgan , proband , biology , centromere , lod score , genetics , linkage (software) , chromosome , gene mapping , gene , mutation
A family with 14p‐ has been studied, 12 of 23 members examined had 14p‐. All but the proband were healthy, mentally and physically, and contrary to the proband the relatives with 14p‐ had normal dermatoglyphic patterns. The Lod score information was very scarce, but a localization of the loci HLA, MN and C3 on 14q at a distance of less than 10 centimorgans from the centromere was excluded, while very close linkage could be excluded for AB0 and Rhesus. Lod scores were positive though very small for AcP, GPT and PGM 3 . The present study as well as the finding of 15 normally developed children with 14p‐ found among 27,587 consecutively liveborn children indicate that deletion 14p is compatible with a normal physical and mental development.