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A final word on the tricho‐rhino‐phalangeal syndromes
Author(s) -
Bühler E. M.,
Bühler U. K.,
Beutler C.,
Fessler R.
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb02806.x
Subject(s) - genetics , biology , dermatology , medicine
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‐phaiangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.