Home LiteratureArticle Details

PMID: 302670 Published · ppublish English Case Reports Journal Article Research Support, U.S. Gov't, P.H.S.

Partial 4q duplication due to inherited der(20), t(4;20)(q25;q13)mat.

Annales de genetique ·Vol. 20 ·No. 1 ·1977-03-00 ·Pages 31-5

Sparkes RS, Francke U, Muller H, Toomey K

Abstract

A boy with mental and growth retardation associated with congenital anomalies has a partial duplication of the distal 4q chromosome region as a result of inheritance of a t(4:20) from his mother. Comparison with twelve other patients from the literature indicates that similar clinical features may be associated with this chromosome change suggesting a partial 4q duplication syndrome.

MeSH Terms

Abnormalities, Multiple/genetics Child Child, Preschool Chromosome Aberrations Chromosomes, Human, 19-20 Chromosomes, Human, 4-5 Humans Infant Intellectual Disability/genetics Male Translocation, Genetic Trisomy

Authors & Affiliations

4 authors, click to expand affiliations / ORCID

Sparkes R S

Francke U

Muller H

Toomey K

Article Info

Journal

Annales de genetique

Abbr.

Ann Genet

ISSN

0003-3995

Published

1977-03-00

Pages

31-5

Language

English

Region

Netherlands

NLM ID

0370562

Subset

External Links

PubMed source

Analysis Services

Partial 4q duplication due to inherited der(20), t(4;20)(q25;q13)mat.

Contact

WeChat Official Account