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The 9p‐ deletion syndrome A patient with a 45,XX,‐9,‐15, + t(9/15) constitution due to maternal 3:l meiotic disjunction
Author(s) -
Bergamo F.,
Crosato F.,
Francesconi D.,
Pasquali F.,
Zuffardi Orsetta
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.tb01303.x
Subject(s) - hypertelorism , chromosomal translocation , meiosis , genetics , girl , chromosome , biology , medicine , gene
Deletion of the short arm of chromosome 9, derived from a 3:1 meiotic segregation in the mother, carrier of a balanced 9/15 translocation, was found in a 3‐year‐old female. Severe psychomotor retardation with delayed speech, brachicephaly, flat occiput, hypertelorism and long upper lip were the main signs in the girl.