[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].

Augmentation de l'activité de la LDH-B chez un garçon trisomique 12p par malségrégation d'une translocation maternelle t(12;14) (q12;p11)

Annales de genetique ·Vol. 18 ·No. 2 ·1975-06-00 ·Pages 81-7

Rethoré MO, Kaplan JC, Junien C, Cruveiller J, Dutrillaux B, Aurias A, Carpentier S, Lafourcade J, Lejeune

Abstract

A newborn male trisomic for 12p is compared with three other 12p trisomics already reported in the literature, as well as with three patients monosomic for 12p. A "type and countertype" opposition is observed for five characters: in the trisomy, turricephaly, shortness of the nose, protruding anthelix, wide palms, and increased LDH-B activity; in the monosomy, protruding occiput, large nose, hypoplasia of the anthelix, narrow palms, and decreased LDH-B activity.

MeSH Terms

Abnormalities, Multiple/genetics Chromosome Aberrations Chromosome Disorders Chromosomes, Human, 6-12 and X Dermatoglyphics Humans Hydroxybutyrate Dehydrogenase/blood Infant Intellectual Disability/genetics Isoenzymes Karyotyping L-Lactate Dehydrogenase/blood Male Pedigree Psychomotor Disorders Translocation, Genetic Trisomy

Chemicals

Isoenzymes L-Lactate Dehydrogenase Hydroxybutyrate Dehydrogenase

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Rethoré M O

Kaplan J C

Junien C

Cruveiller J

Dutrillaux B

Aurias A

Carpentier S

Lafourcade J

Lejeune

Article Info

Journal

Annales de genetique

Abbr.

Ann Genet

ISSN

0003-3995

Published

1975-06-00

Pages

81-7

Language

fre

Region

Netherlands

NLM ID

0370562

Subset

External Links

PubMed source

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[Increase of the LDH-B activity in a boy with 12p trisomy by malsegregation of a maternal translocation t(12;14) (q12;p11)].

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