Trisomy 4p14 leads to 4pter with translocation t(4;15)(p14;p12) in the father.

Humangenetik ·Vol. 29 ·No. 4 ·1975-10-07 ·Pages 329-35

Schröchsnadel H, Feichtinger C, Scheminzky C

Abstract

A trisomy 4p14 leads to 4pter in a 15-year-old girl is reported. The main features are physical and mental retardation and the absence of gross malformations. The relevance of other symptoms found in the patient is discussed.

MeSH Terms

Adolescent Chromosome Aberrations Chromosomes, Human, 13-15 Chromosomes, Human, 4-5 Female Growth Disorders/genetics Humans Intellectual Disability/genetics Male Pedigree Phenotype Translocation, Genetic Trisomy

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Schröchsnadel H

Feichtinger C

Scheminzky C

References (19)

19 references, click to expand

[Segregation of a balanced translocation t(5p-;Gp+)].
Ann Genet. 1968 Dec;11(4):247-52 PMID: 5306368
A case of trisomy of the short arms of chromosome no. 4 with translocation t(4p 21p; 4q 21q) in the mother.
Humangenetik. 1975;26(2):87-91 PMID: 1112609
[Pericentric inversion of chromosome 4 : inv (4) (p13, q35) and trisomy of the short branch of chromosome 4 due to recombination aneusomy].
Ann Genet. 1974 Jun;17 (2):115-8 PMID: 4547938
[Genetic and clinical study of a family of 7 children in which 3 persons have "crying cat syndrome"].
Ann Genet. 1966 Sep;9(3):113-22 PMID: 5298289
[Partial trisomy of the short arm of chromosome 4 due to translocation t(4p-22p+)].
Humangenetik. 1973 May 25;18(3):207-11 PMID: 4719632
Translocation heterozygosis: a cause of five cases of the cri du chat syndrome and two cases with a duplication of chromosome number five in three families.
Am J Hum Genet. 1967 Jul;19(4):586-603 PMID: 6036276
Paternal transmission of a B-D translocation, t(4p-; 14p + or 15p+), resulting in a partial 4p trisomy.
Humangenetik. 1972;16(3):251-9 PMID: 5082106
Multiple congenital defects associated with trisomy for the short arm of chromosome 4.
J Med Genet. 1974 Sep;11(3):291-5 PMID: 4431034
[Trisomy 4p due to recombination aneusomy of an inversion 4 (p 14, q 35)].
Ann Genet. 1974 Jun;17(2):109-14 PMID: 4547937
[Familial translocation t(4;22) (p11;p12) and trisomy 4p in 2 sisters].
Ann Genet. 1974 Jun;17(2):119-24 PMID: 4547939
Partial trisomy 4p with translocation 4p-, 22p+ in the father.
Ann Genet. 1973 Dec;16(4):263-6 PMID: 4544090
Identification of human chromosomes by DNA-binding fluorescent agents.
Chromosoma. 1970;30(2):215-27 PMID: 4193398
Case report. Familial 4-22 translocation with partial trisomy for the short arm of chromosome 4 in two sibs.
Acta Paediatr Scand. 1974 Jul;63(4):631-5 PMID: 4850900
Trisomy 4p in a family with A t(4;15).
Ann Genet. 1975 Mar;18(1):13-9 PMID: 1080034
[Partial trisomy for the short arm of chromosome 4 with translocation 4p-,18q+ in the father].
Humangenetik. 1972;15(2):163-71 PMID: 5049069
Inherited pericentric inversion of chromosome no. 4.
Am J Hum Genet. 1970 Nov;22(6):679-90 PMID: 5518460
Karyotype with chromosomal abnormality with various inherited defects in the offspring (recombination aneusomy).
Humangenetik. 1973 Dec 20;20(4):355-9 PMID: 4768111
[Trisomy 4p].
Ann Genet. 1974 Jun;17(2):125-8 PMID: 4547940
[The crying cat syndrome and its reciprocal].
Ann Genet. 1965;8(1):11-5 PMID: 5294630

Article Info

Journal

Humangenetik

Abbr.

Humangenetik

ISSN

0018-7348

DOI

10.1007/BF00394195

Published

1975-10-07

Pages

329-35

Language

English

Region

Germany

NLM ID

7607154

Subset

External Links

PubMed source DOI: 10.1007/BF00394195

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Trisomy 4p14 leads to 4pter with translocation t(4;15)(p14;p12) in the father.

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