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A Case with Partial Long‐Arm Deletion of Chromosome11
Author(s) -
KunoSakai Harumi,
Nagumo Fumio,
Sugimori Miyoko
Publication year - 1979
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/j.1442-200x.1979.tb00212.x
Subject(s) - medicine , ptosis , long arm , chromosome , anatomy , genetics , surgery , gene , biology
A boy with terminal deletion of the long arm of chromosome 11 (11 q‐) is described. This case is the sixteenth reported case of the 11 q‐ syndrome in the world and the second reported case in Japan. The 11 q‐ syndrome is characterized by mental retardation and various dysmorphic signs such as scaphocephaly, ptosis of the upper lids, broad nasal root, and carp mouth 1 )˜ 12 ).