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PMID: 939554 Published · ppublish English Case Reports Journal Article

A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation.

Human genetics ·Vol. 32 ·No. 3 ·1976-06-29 ·Pages 343-8

Nielsen J, Rasmussen K, Lassen LB, Christansen F

Abstract

A family with autosomal reciprocal translocation t(4;13) (q25;a31) with a sibship comprising 2 children with unbalanced karyotypes, der(13) partial trisomy 4q, 1 child with the balanced translocation, and 2 abortions were studied. The segregation risk of unbalanced derivation in reciprocal translocations is discussed. The clinical picture of the 2 children with partial trisomy 4q is compared with similar cases.

MeSH Terms
Child Chromosome Aberrations Chromosomes, Human, 13-15 Chromosomes, Human, 4-5 Female Humans Infant Meiosis Pedigree Phenotype Translocation, Genetic Trisomy
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Nielsen J
Rasmussen K
Lassen L B
Christansen F
References (12)
12 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00295827
Published
1976-06-29
Pages
343-8
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00295827 View journal details
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