Home LiteratureArticle Details
PMID: 138497 Published · ppublish English Case Reports Journal Article

Partial trisomies of chromosome 21 in man. Two new observations due to translocations 19;21 and 4;21.

Clinical genetics ·Vol. 11 ·No. 3 ·1977-03-00 ·Pages 207-13

Pfeiffer RA, Kessel EK, Soer KH

Abstract

Partial trisomy of the distal portion of the long arm of chromosome no. 21, resulting from a (familial) translocation between the chromosomes no. 19 and 21 in a female twin with Down's syndrome, supports the hypothesis that triplication of 21q22 is the cause of the physical signs of mongolism. Partial trisomy of the remaining segments of chromosome no. 21 due to a (familial) translocation between the chromosomes no. 4 and 21, however, may only cause mental deficiency.

MeSH Terms
Child Child, Preschool Chromosome Aberrations Chromosomes, Human, 19-20 Chromosomes, Human, 21-22 and Y Chromosomes, Human, 4-5 Down Syndrome/genetics Female Humans Intellectual Disability/genetics Karyotyping Pregnancy Translocation, Genetic Trisomy Twins, Dizygotic
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Pfeiffer R A
Kessel E K
Soer K H
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
Published
1977-03-00
Pages
207-13
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com