TY - JOUR
T1 - Ring chromosome 9 with a 9p22.3-p24.3 duplication
AU - Seghezzi, L.
AU - Maraschio, P.
AU - Bozzola, M.
AU - Maserati, E.
AU - Tupler, R.
AU - Marchi, A.
AU - Tiepolo, L.
PY - 1999
Y1 - 1999
N2 - 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.
AB - 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.
KW - 9p duplication
KW - Mild phenotypic abnormalities
KW - Ring chromosome 9
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U2 - 10.1007/s004310051206
DO - 10.1007/s004310051206
M3 - Article
C2 - 10486077
AN - SCOPUS:0032884428
SN - 0340-6199
VL - 158
SP - 791
EP - 793
JO - European Journal of Pediatrics
JF - European Journal of Pediatrics
IS - 10
ER -