Partial trisomy 12p due to t(12;21)pat translocation.

Human genetics ·Vol. 36 ·No. 1 ·1977-04-07 ·Pages 35-41

Biederman B, Bowen P, Robertson C, Schiff D

Abstract

Partial trisomy (interchromosomal duplication) of the short arm of chromosome No. 12 was observed in an infant girl with psychomotor retardation, prominent forehead, ptosis of the right eyelid, esotropia/exotropia, flat nose, hypotonia and other anomalies. A comparison of her features with those in five reported cases with a similar chromosomal imbalance shows certain features common to all, but the material is too limited for definitive characterization of a trisomy 12p syndrome.

MeSH Terms

Chromosome Aberrations Chromosomes, Human, 21-22 and Y Chromosomes, Human, 6-12 and X Female Humans Infant Infant, Newborn Pedigree Phenotype Translocation, Genetic Trisomy

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Biederman B

Bowen P

Robertson C

Schiff D

References (8)

8 references, click to expand

Trisomy 12p due to familial t(12p-,6q plus) translocation.
Humangenetik. 1974;24(3):247-52 PMID: 4140836
Assignment of the genes for malate oxidoreductase decarboxylating to chromosome 6 and peptidase B and lactate dehydrogenase B to chromosome 12 in man.
Am J Hum Genet. 1973 Mar;25(2):200-7 PMID: 4689040
Banding in human chromosomes treated with trypsin.
Nat New Biol. 1972 Jan 12;235(54):52-4 PMID: 4109406
Identification of partial 12 trisomy by quinacrine fluorescence.
J Pediatr. 1973 Feb;82(2):269-72 PMID: 4119313
Human nucleolar organizer chromosomes: satellite associations.
Chromosoma. 1976 Mar 31;55(1):81-4 PMID: 56257
[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].
Ann Genet. 1975 Jun;18(2):81-7 PMID: 1081369
The 12p trisomy syndrome.
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Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00390433

Published

1977-04-07

Pages

35-41

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00390433 View journal details

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Partial trisomy 12p due to t(12;21)pat translocation.

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