Partial trisomy 7p associated with familial 7p;22q translocation.

Journal of medical genetics ·Vol. 14 ·No. 4 ·1977-08-00 ·Pages 258-61

Larson LM, Wasdahl WA, Jalal SM

Abstract

A newly described partial trisomy of the short arm of chromosome number 7 is reported in a familial translocation between 7 and 22. The unbalanced translocation was found in one family member, the propositus, and the balanced form in 5 other members. The possibility of this translocation being a rare telomeric attachment previously undescribed in humans is discussed. Prominent clinical features include general mental and motor retardation, microbrachycephaly, and cardiac and oral abnormalities.

MeSH Terms

Adolescent Adult Chromosome Aberrations Chromosome Disorders Chromosomes, Human, 21-22 and Y Chromosomes, Human, 6-12 and X Female Heart Defects, Congenital Humans Infant Intellectual Disability Karyotyping Male Motor Skills Pedigree Translocation, Genetic Trisomy

Authors & Affiliations

3 authors, click to expand affiliations / ORCID

Larson L M

Wasdahl W A

Jalal S M

References (8)

8 references, click to expand

Giemsa banding in prematurely condensed chromosomes obtained by cell fusion.
Nat New Biol. 1973 Mar 28;242(117):106-7 PMID: 4122469
A rapid banding technique for human chromosomes.
Lancet. 1971 Oct 30;2(7731):971-2 PMID: 4107917
New technique for distinguishing between human chromosomes.
Nat New Biol. 1971 Jul 7;232(27):31-2 PMID: 4105244
Two different chromosome abnormalities resulting from a translocation carrier father.
J Pediatr. 1973 Dec;83(6):1034-8 PMID: 4757516
New chromosomal syndromes.
Am J Dis Child. 1975 Apr;129(4):515-29 PMID: 124130
Evolutionary conservatism in arrangement of genetic material. A comparative analysis of chromosome banding between the rhesus macaque (2n equals 42, 84 arms) and the African green monkey (2n equals 60, 120 arms).
Chromosoma. 1973 Aug 10;43(2):211-24 PMID: 4783711
High resolution of human chromosomes.
Science. 1976 Mar 26;191(4233):1268-70 PMID: 1257746
Leukocytes cultured from small inocula of whole blood and the preparation of metaphase chromosomes by treatment with hypotonic KCl.
Stain Technol. 1965 Nov;40(6):333-8 PMID: 5866557

Article Info

Journal

Journal of medical genetics

Abbr.

J Med Genet

ISSN

0022-2593

DOI

10.1136/jmg.14.4.258

Published

1977-08-00

Pages

258-61

Language

English

Region

England

NLM ID

2985087R

PMCID

PMC1013579

Subset

External Links

PubMed source DOI: 10.1136/jmg.14.4.258 PMC Full Text View journal details

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Partial trisomy 7p associated with familial 7p;22q translocation.

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