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PMID: 3594935 Published · ppublish English Case Reports Journal Article

A final word on the tricho-rhino-phalangeal syndromes.

Clinical genetics ·Vol. 31 ·No. 4 ·1987-04-00 ·Pages 273-5

Bühler EM, Bühler UK, Beutler C, Fessler R

Abstract

Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12. A case of tricho-rhino-phalangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.

MeSH Terms
Abnormalities, Multiple/genetics Bone and Bones/abnormalities Child Chromosome Deletion Chromosomes, Human, Pair 8 Hair/abnormalities Humans Male Mosaicism Nose/abnormalities Syndrome
Authors & Affiliations
4 authors, click to expand affiliations / ORCID
Bühler E M
Bühler U K
Beutler C
Fessler R
Article Info
Journal
Clinical genetics
Abbr.
Clin Genet
ISSN
0009-9163
Published
1987-04-00
Pages
273-5
Language
English
Region
Denmark
NLM ID
0253664
Subset
IM
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