Partial trisomy 2q and familial translocation t(2;12)(q31;q24).

Human genetics ·Vol. 32 ·No. 1 ·1976-04-15 ·Pages 101-4

Zabel B, Hansen S, Hartmann W

Abstract

Report is given of a boy with trisomy of the distal part of the long arm of chromosome 2 (q31 leads to ter) due to a balanced 2/12 translocation in the mother: 46,XX,t(2;12) (q31;q24). Other phenotypically normal carriers of this balanced translocation are the patients sister and grandfather. The patient shows a variety of dysplastic signs mainly of the face.

MeSH Terms

Chromosome Aberrations Chromosomes, Human, 1-3 Chromosomes, Human, 6-12 and X Female Humans Infant, Newborn Karyotyping Male Pedigree Phenotype Translocation, Genetic Trisomy

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Zabel B

Hansen S

Hartmann W

References (3)

3 references, click to expand

Banding in human chromosomes treated with trypsin.
Nat New Biol. 1972 Jan 12;235(54):52-4 PMID: 4109406
[Familial balanced translocation t(2; 13) (q32; q33) and partial trisomy 2q].
Ann Genet. 1973 Dec;16(4):255-8 PMID: 4544088
[Familial translocation 2-D].
Ann Genet. 1968 Jun;11(2):111-3 PMID: 5303422

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00569983

Published

1976-04-15

Pages

101-4

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00569983 View journal details

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Partial trisomy 2q and familial translocation t(2;12)(q31;q24).

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