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Ring chromosome 9 with a 9p22.3-p24.3 duplication

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Abstract

A ring chromosome 9 containing an inverted 9p22.3-p24.3 duplication was found in a girl presenting with some of the phenotypic characteristics of ring 9 syndrome such as trigonocephaly, microcephaly, hypotelorism, micrognathia, single palmar crease, and bilateral clinodactyly. The typical facial dysmorphic features of 9p duplication, ascribed to trisomy of the band p22, were not present in this patient. Cytogenetic and molecular studies indicated that the duplicated region of band p22 in the ring is confined to the sub-band 22.3.

Conclusion The chromosome region responsible for the 9p duplication syndrome appears to be restricted to sub-bands p22.1-22.2.

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Authors and Affiliations

  1. Clinica Pediatrica, Università di Pavia, IRCCS Policlinico S. Matteo, Pavia, Italy, , , , , , IT

    M. Bozzola & A. Marchi

  2. Centro di Genetica Clinica, Università di Sassari, Italy, , , , , , IT

    E. Maserati

  3. Biologia Generale e Genetica Medica, Via Forlanini 14, I-27100 Pavia, Italy e-mail: Marasc@ipv36.unipv.it, Tel.: +39-0382-507726, Fax: +39-0382-525030, , , , , , IT

    L. Seghezzi, P. Maraschio, R. Tupler & L. Tiepolo

Authors
  1. L. Seghezzi
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  2. P. Maraschio
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  3. M. Bozzola
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  4. E. Maserati
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  5. R. Tupler
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  6. A. Marchi
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  7. L. Tiepolo
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Additional information

Received: 16 October 1998 and in revised form: 28 February 1999 / Accepted: 16 March 1999

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Seghezzi, L., Maraschio, P., Bozzola, M. et al. Ring chromosome 9 with a 9p22.3-p24.3 duplication. Eur J Pediatr 158, 791–793 (1999). https://doi.org/10.1007/s004310051206

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  • DOI: https://doi.org/10.1007/s004310051206

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