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Trisomy 9 mosaicism
Author(s) -
Lewandowski Raymond C.,
Yunis Jorge J.
Publication year - 1977
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.1399-0004.1977.tb01317.x
Subject(s) - trisomy , hypoplasia , nose , aneuploidy , genetics , medicine , anatomy , biology , chromosome , gene
The first live‐born female with trisomy 9 mosaicism is reported. This patient, like four others in the literature, has a characteristic face with narrowed temples, enophthalmus, large nose and pouched cheeks, as well as skeletal abnormalities of the extremities, including hip dislocation, limited joint mobility and bone hypoplasia.