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PMID: 939567 Published · ppublish English Case Reports Journal Article

Two cases of trisomy 4p with translocation t(4p-,7q+) in several members of one family.

Human genetics ·Vol. 33 ·No. 2 ·1976-07-27 ·Pages 155-60

Andrle M, Erlach A, Killian W, Rett A

Abstract

Report of a family with 7 cases of balanced translocation t(4p-,7q+), resulting in partial trisomy in 2 children descending from parents being brother and sister. Description of the clinical cases, family history, and cytogenetic findings followed by a short discussion of phenotypical differences of the two probands.

MeSH Terms
Adolescent Chromosome Aberrations Chromosomes, Human, 4-5 Chromosomes, Human, 6-12 and X Face Female Humans Male Pedigree Phenotype Translocation, Genetic Trisomy
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Andrle M
Erlach A
Killian W
Rett A
References (6)
6 references, click to expand
  1. The 4p-syndrome, with a report of two new cases.
    Humangenetik. 1973;19(1):99-109 PMID: 4725911
  2. Trisomy 4p14 leads to 4pter with translocation t(4;15)(p14;p12) in the father.
    Humangenetik. 1975 Oct 7;29(4):329-35 PMID: 1176148
  3. The use of proteolytic enzymes for the mapping of structural rearrangements in the chromosomes of man.
    Chromosoma. 1972;36(2):204-10 PMID: 5016007
  4. [Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].
    Humangenetik. 1972;15(2):163-71 PMID: 5049069
  5. [Trisomy 4p].
    Ann Genet. 1974 Jun;17(2):125-8 PMID: 4547940
  6. [Trisomy 4p. Three new observations (author's transl)].
    Humangenetik. 1975 Nov 6;30(2):99-108 PMID: 1193607
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1976-07-27
Pages
155-60
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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