Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).

Annales de genetique ·Vol. 18 ·No. 1 ·1975-03-00 ·Pages 50-5

Kroyer S, Niebuhr E

Abstract

Partial trisomy 10q was observed in an eighteen year old girl with severe mental and physical retardation, microcephaly, a high forehead, microphthalmia, antimongoloid slants, low set ears and severely malformed extremities. A balanced translocation t(10q-;18q+), present in several family members, was identified by fluorescence and thermic denaturation techniques; the break points were 10q25 and 18q23. A comparison made with seven similar cases suggests a common, phenotypical appearance which may be of diagnostic value.

MeSH Terms

Abnormalities, Multiple/genetics Adolescent Chromosome Aberrations Chromosomes, Human, 16-18 Chromosomes, Human, 6-12 and X Craniofacial Dysostosis/genetics Dermatoglyphics Ear/abnormalities Eyelids/abnormalities Female Fluorescence Growth Disorders/genetics Humans Intellectual Disability/genetics Karyotyping Limb Deformities, Congenital Microcephaly/genetics Microphthalmos/genetics Mouth Abnormalities/genetics Nucleic Acid Denaturation Pedigree Staining and Labeling Translocation, Genetic Trisomy

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Kroyer S

Niebuhr E

Article Info

Journal

Annales de genetique

Abbr.

Ann Genet

ISSN

0003-3995

Published

1975-03-00

Pages

50-5

Language

English

Region

Netherlands

NLM ID

0370562

Subset

External Links

PubMed source

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Partial trisomy 10q occurring in a family with a reciprocal translocation t(10;18)(q25;q23).

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