A newborn child with karyotype 47,XX,+der(12 (12pter leads to 12q12::9q24 leads to 8qter),t(8;12) (q24;q12) pat.

Human genetics ·Vol. 35 ·No. 3 ·1977-03-14 ·Pages 357-62

Nielsen H, Vetner M, Holm V, Askjaer S, Reske-Nielsen E

Abstract

暂无摘要

MeSH Terms

Abnormalities, Multiple/genetics Chromosome Aberrations Chromosomes, Human, 6-12 and X Female Humans Infant, Newborn Phenotype Translocation, Genetic Trisomy

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Nielsen H

Vetner M

Holm V

Askjaer S

Reske-Nielsen E

References (5)

5 references, click to expand

Trisomy 12p due to familial t(12p-,6q plus) translocation.
Humangenetik. 1974;24(3):247-52 PMID: 4140836
Identification of partial 12 trisomy by quinacrine fluorescence.
J Pediatr. 1973 Feb;82(2):269-72 PMID: 4119313
[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.
Ann Genet. 1975 Jun;18(2):89-94 PMID: 1081370
The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.
Hereditas. 1972;67(1):89-102 PMID: 4142006

Article Info

Journal

Human genetics

Abbr.

Hum Genet

ISSN

0340-6717

DOI

10.1007/BF00446627

Published

1977-03-14

Pages

357-62

Language

English

Region

Germany

NLM ID

7613873

Subset

External Links

PubMed source DOI: 10.1007/BF00446627 View journal details

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A newborn child with karyotype 47,XX,+der(12 (12pter leads to 12q12::9q24 leads to 8qter),t(8;12) (q24;q12) pat.

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