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PMID: 500091 Published · ppublish English Case Reports Journal Article

Presumptive long arm deletion of chromosome 8: a new syndrome?

Human genetics ·Vol. 51 ·No. 1 ·1979-09-02 ·Pages 49-53

Taysi K, Noetzel MJ, Strauss AW

Abstract

This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.

MeSH Terms
Abnormalities, Multiple/genetics Chromosome Deletion Chromosomes, Human, 6-12 and X Diagnosis, Differential Humans Infant Karyotyping Male Psychomotor Disorders/genetics Syndrome
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Taysi K
Noetzel M J
Strauss A W
References (2)
2 references, click to expand
  1. Small structural changes of chromosome 8. Two cases with evidence for deletion.
    Hum Genet. 1977 Aug 31;38(1):113-21 PMID: 903151
  2. Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213).
    Hum Genet. 1977 Sep 22;38(2):125-30 PMID: 908558
Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
Published
1979-09-02
Pages
49-53
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
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