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Partial Trisomy 18q Associated with Terminal Deletion of 5p: 46, XX, +der (5), t(5; 18) (p15.3; q12.2) pat.
Author(s) -
Madokoro Harumichi,
Ohdo Shozo,
Sonoda Tohru,
Togoe Tomoka
Publication year - 1985
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.1985.tb00668.x
Subject(s) - medicine , trisomy , partial trisomy , karyotype , terminal (telecommunication) , isochromosome , chromosome , genetics , microbiology and biotechnology , biology , gene , telecommunications , computer science
A female infant with a 46,XX,+der95),t(5;18)(p15.3;q12.2) pat karyotype is reported. Her clinical features were milder than those of patients with full trisomy 18. She had no cat‐like cry. This suggests that the deletion of the 5p15.3 to pter is not responsible for the cat‐like cry noted in the patients with the 5p‐syndrome.