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Trisomy 9p in a patient with a de novo 9/15 translocation
Author(s) -
Jacobsen Petrea,
Hobolth Niels,
Mikkelsen Margareta
Publication year - 1975
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.1399-0004.1975.tb00335.x
Subject(s) - hypertelorism , chromosomal translocation , trisomy , biology , nose , chromosome , genetics , chromosome 18 , anatomy , medicine , gene
Mental retardation, facial dysmorphism, hypertelorism, antimongoloid eye slants, epicanthus, globular nose, malformed ears, bone abnormalities, one flexion crease on 5th finger, simian crease, and speech difficulties with delayed expressivity were found in a girl with trisomy of the short arm of chromosome 9. The 9p+ syndrome was due to a sporadic translocation of the short arm of chromosome 9 onto the short arm of chromosome 15.
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