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J Med Genet 2000;37:529-532 ( July )

Short report

Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review Anita Hellera, J Seidelb, A Hüblerb, H Starkea, V Beensena, G Sengerc, M Rocchid, J Wirthe, I Chudobaf, U Claussena, T Liehra

a Institut für Humangenetik und Anthropologie, Kollegiengasse 10, D-07740 Jena, Germany, b Children's Hospital, Kochstrasse 2, D-07740 Jena, Germany, c Practice of Medical Genetics and Gynaecology, Roritzerstrasse 2, D-93047 Regensburg, Germany, d Institute of Genetics, Via G Amendola 165/A, I-70126 Bari, Italy, e Max-Planck-Institute for Molecular Genetics, Ihnestrasse 73, D-14195 Berlin-Dahlem, Germany, f MetaSystems Inc, Robert-Bosch-Strasse 6, D-68804 Altlussheim, Germany

Correspondence to: Dr Liehr, i8lith{at}mti-n.mti.uni-jena.de

Revised version received 18 January 2000; Accepted for publication 26 January 2000

Partial trisomy 9q represents a rare and heterogeneous group of chromosomal aberrations characterised by various clinical features including pyloric stenosis. Here, we describe the case of a 1 year old female patient with different dysmorphic features including pyloric stenosis and prenatally detected partial trisomy 9q. This partial trisomy 9q has been analysed in detail to determine the size of the duplication and to characterise the chromosomal breakpoints. According to the data gained by different molecular cytogenetic techniques, such as fluorescence in situ hybridisation (FISH) with whole and partial chromosome painting probes, yeast artificial chromosome (YAC) probes, and comparative genomic hybridisation (CGH), the derivative chromosome 9 can be described as dup(9)(pterright-arrowq22.1::q31.1right-arrowq22.1::q31.1right-arrow q22.1::q31.1right-arrowqter). Four breakpoint spanning YACs have been identified (y806f02, y906g6, y945f5, and y747b3) for the proximal breakpoint. According to this new case and previously published data, the recently postulated putative critical region for pyloric stenosis can be narrowed down to the subbands 9q22.1-q31.1 and is the result of either partial trisomy of gene(s) located in this region or a gene disrupted in 9q31.


Keywords: partial trisomy 9q; pyloric stenosis; FISH; CGH

© 2000 by J Med Genet




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