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Complex de novo rearrangement of chromosome 9 with clinical features of monosomy 9p syndrome
Author(s) -
Hoo J. J.,
Parslow M. I.,
Shaw R. L.,
Veale A. M. O.
Publication year - 1979
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.1399-0004.1979.tb00984.x
Subject(s) - monosomy , chromosomal inversion , chromosomal rearrangement , long arm , biology , genetics , chromosome 9 , karyotype , chromosome 7 (human) , chromosome , gene
A girl with a complex rearrangement of chromosome 9 is reported. She shows the characteristic clinical features of monosomy 9p syndrome. The rearrangement was apparently preceded by four breaks which resulted in a presumptive tiny deletion of the distal end of the short arm, inversion of the rest of this arm and a proven deletion of the secondary constriction region of the long arm. By means of C‐banding, it was possible to demonstrate the paternal origin of the rearranged chromosome 9. Finally, it is shown that the region determining the phenotypic expression of monosomy 9p syndrome is seemingly located at band 9p24.