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.

Ring chromosome 9 with a 9p22.3-p24.3 duplication / L., Seghezzi; P., Maraschio; M., Bozzola; E., Maserati; Tupler, Rossella; A., Marchi; L., Tiepolo. - In: EUROPEAN JOURNAL OF PEDIATRICS. - ISSN 0340-6199. - STAMPA. - 158:(1999), pp. 791-793.

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

TUPLER, Rossella;
1999

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.
158
791
793
Ring chromosome 9 with a 9p22.3-p24.3 duplication / L., Seghezzi; P., Maraschio; M., Bozzola; E., Maserati; Tupler, Rossella; A., Marchi; L., Tiepolo. - In: EUROPEAN JOURNAL OF PEDIATRICS. - ISSN 0340-6199. - STAMPA. - 158:(1999), pp. 791-793.
L., Seghezzi; P., Maraschio; M., Bozzola; E., Maserati; Tupler, Rossella; A., Marchi; L., Tiepolo
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/459453
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