TY - JOUR
T1 - Pure trisomy 19p syndrome in an infant with an extra ring chromosome
AU - Novelli, A.
AU - Ceccarini, C.
AU - Bernardini, L.
AU - Zuccarello, D.
AU - Digilio, M. C.
AU - Mingarelli, R.
AU - Dallapiccola, B.
PY - 2005
Y1 - 2005
N2 - We report a 12-month-old infant evaluated for severe hypotonia, psychomotor retardation, and facial dysmorphisms, including round face, high prominent forehead, downward slanted palpebral fissures, hypertelorism, short nose, chubby cheeks, long philtrum, anteverted lower lip, low-set asymmetric and dysmorphic ears. Karyotype analysis disclosed an extra mosaic ring chromosome, which included the whole 19p arm. Four additional patients with supernumerary ring 19 chromosomes have been reported, but none of them had pure trisomy 19p.
AB - We report a 12-month-old infant evaluated for severe hypotonia, psychomotor retardation, and facial dysmorphisms, including round face, high prominent forehead, downward slanted palpebral fissures, hypertelorism, short nose, chubby cheeks, long philtrum, anteverted lower lip, low-set asymmetric and dysmorphic ears. Karyotype analysis disclosed an extra mosaic ring chromosome, which included the whole 19p arm. Four additional patients with supernumerary ring 19 chromosomes have been reported, but none of them had pure trisomy 19p.
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U2 - 10.1159/000086391
DO - 10.1159/000086391
M3 - Article
C2 - 16103663
AN - SCOPUS:23844478879
SN - 1424-8581
VL - 111
SP - 182
EP - 185
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
IS - 2
ER -