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Identification of the chromosome 14 origin of a C‐negative marker associated with a 14q32 deletion by chromosome painting
Author(s) -
Sacchi Ivana Magnani Nicoletta,
Darfler Marlene,
Nisson Paul E.,
Tornaghi Raffaella,
FuhrmanContl Anna Maria
Publication year - 1993
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.1399-0004.1993.tb04444.x
Subject(s) - marker chromosome , biology , chromosome , chromosome 21 , chromosomal translocation , chromosome 22 , genetics , fluorescence in situ hybridization , karyotype , small supernumerary marker chromosome , chromosome 19 , chromosomal rearrangement , microbiology and biotechnology , chromosome 15 , gene
A constitutional chromosome 14 rearrangement was observed in a female with a psychodevelopmental disorder. Karyotype analysis using a variety of chromosome techniques, QFQ, GTG, CBG, Ag‐NOR and DA‐DAPI, showed a deletion of chromosome 14q32.1‐qter region in association with a supernumerary marker chromosome. The marker, resembling a submetacentric, approximately half the size of a G group chromosome is C band and Ag‐NOR negative. The heteromorphism of the satellites showed that the deleted chromosome 14 is paternal in origin. Chromosome painting using an Alu‐PCR probe specific for the human chromosome 14 and fluorescent in situ hybridization (FISH) showed that the marker contains chromosome 14q32 sequences. It is likely that the marker was generated from the deleted chromosome 14 region through a complex rearrangement.