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Langer‐Giedion syndrome and additional congenital malformations with interstitial deletion of the long arm of chromosome 8 46, XY, del 8 (q 13–22)
Author(s) -
Pfeiffer R. A.
Publication year - 1980
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.1399-0004.1980.tb01025.x
Subject(s) - long arm , syndactyly , mentally retarded , karyotype , congenital malformations , chromosome , x chromosome , genetics , medicine , anatomy , biology , gene , pregnancy , psychology , developmental psychology
Deletion of the long arm of chromosome 8 was found in a mentally retarded boy with typical features of the Langer‐Giedion syndrome (TRP syndrome type II). Additional malformations were colobomata of the iris and partial syndactyly of the 4th and 5th fingers.