TY - JOUR
T1 - Partial trisomy 19p
T2 - case report and natural history
AU - Salbert, B. A.
AU - Solomon, M.
AU - Spence, J. L.
AU - Jackson‐Cook, C.
AU - Brown, J.
AU - Bodurtha, J.
PY - 1992/3
Y1 - 1992/3
N2 - Salbert BA, Solomon M, Spence JE, Jackson‐Cook C, Brown J, Bodurtha J. Partial trisomy 19p: case report and natural history. Clin Genet 1992: 41: 143–146. Partial trisomy 19p was noted in an infant delivered at 39 weeks gestation with intrauterine growth retardation (IUGR), bilateral club feet, renal abnormalities, hearing deficit, and multiple dysmorphic features. Chromosomes obtained following amniocentesis at 32 weeks gestation revealed that the fetus was partially trisomic for 19p and partially monosomic for a portion of the terminal band of 3q, having inherited a derivative chromosome 3 from her father [46,XX,‐3, + der(3)t(3;19)(q29;p13.2)pat]. The father was found to be the carrier of a balanced translocation between chromosomes 3 and 19 [46,XY,t(3;19)(q29;p13.2)]. The only other case of partial trisomy 19p previously reported was an infant with partial trisomy 19p and partial monosomy 13q who died at 59 days of age. This report by Byrne et al. [(Am J Hum Genet 1980: 32: 64A] is similar to our case with respect to IUGR, small palpebral fissures, and ear anomalies.
AB - Salbert BA, Solomon M, Spence JE, Jackson‐Cook C, Brown J, Bodurtha J. Partial trisomy 19p: case report and natural history. Clin Genet 1992: 41: 143–146. Partial trisomy 19p was noted in an infant delivered at 39 weeks gestation with intrauterine growth retardation (IUGR), bilateral club feet, renal abnormalities, hearing deficit, and multiple dysmorphic features. Chromosomes obtained following amniocentesis at 32 weeks gestation revealed that the fetus was partially trisomic for 19p and partially monosomic for a portion of the terminal band of 3q, having inherited a derivative chromosome 3 from her father [46,XX,‐3, + der(3)t(3;19)(q29;p13.2)pat]. The father was found to be the carrier of a balanced translocation between chromosomes 3 and 19 [46,XY,t(3;19)(q29;p13.2)]. The only other case of partial trisomy 19p previously reported was an infant with partial trisomy 19p and partial monosomy 13q who died at 59 days of age. This report by Byrne et al. [(Am J Hum Genet 1980: 32: 64A] is similar to our case with respect to IUGR, small palpebral fissures, and ear anomalies.
KW - chromosome 19
KW - short arm‐trisomy
UR - http://www.scopus.com/inward/record.url?scp=0026535308&partnerID=8YFLogxK
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U2 - 10.1111/j.1399-0004.1992.tb03651.x
DO - 10.1111/j.1399-0004.1992.tb03651.x
M3 - Article
C2 - 1563088
AN - SCOPUS:0026535308
SN - 0009-9163
VL - 41
SP - 143
EP - 146
JO - Clinical Genetics
JF - Clinical Genetics
IS - 3
ER -