RT Journal Article
SR Electronic
T1 Partial trisomy 14q -- and parental translocation of No. 14 chromosome. Report of a case and review of the literature.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 124
OP 127
DO 10.1136/jmg.14.2.124
VO 14
IS 2
A1 J Simpson
A1 H Zellweger
YR 1977
UL http://jmg.bmj.com/content/14/2/124.abstract
AB A case of partial trisomy 14 (47, + 14q-) is presented. The proband's mother had a balanced translocation of 14q with the long arm of a No. 3 chromosome. Clinical and cytogenetic findings of this case are compared with 5 other cases of 47, + 14q-, in which one parent had a balanced translocation of the distal part of the No. 14 long arm to another chromosome. It appears that this chromosomal aneuploidy produces a fairly typical clinical picture.