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Trisomy 18q‐. Trisomy mapping of chromosome 18 revisited
Author(s) -
Turleau C.,
ChavinColin F.,
Narbouton R.,
Asensi D.,
Grouchy J. DE
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.tb01359.x
Subject(s) - trisomy , chromosome 18 , biology , chromosome , genetics , gene
Two patients with trisomy for 18p and the proximal segment of 18q (trisomy 18q –) are reported and compared with similar cases from the literature. The phenotype of trisomy 18q– resembles that of full trisomy 18 but differs mainly in the birdlike face, small mouth, more pronounced microretrognathia, minor skeletal dysplasia and inner organ malformations, and less severe vital prognosis.