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Tandem duplication of chromosome 14 (q24+q32) in male newborn with congenital malformations
Author(s) -
š Jovanka Nikoli,
Ivanović Ksenija,
Kosanović Marija
Publication year - 1983
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.1399-0004.1983.tb01885.x
Subject(s) - chromosomal translocation , tandem exon duplication , gene duplication , trisomy , congenital malformations , biology , genetics , growth retardation , partial trisomy , aneuploidy , chromosome , karyotype , pregnancy , gene
A tandem duplication of 14q24→q32, estimated by G‐ and R‐banding, was found in a male newborn with growth retardation and congenital malformations. His clinical picture is compared with that of three patients from the literature with partial trisomy for a similar segment of 14q due to a parental reciprocal translocation or a de novo translocation.