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Partial trisomy 19p: case report and natural history
Author(s) -
Salbert B. A.,
Solomon M.,
Spence J. L.,
JacksonCook C.,
Brown J.,
Bodurtha J.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03651.x
Subject(s) - derivative chromosome , partial trisomy , trisomy , monosomy , chromosomal translocation , biology , medicine , karyotype , genetics , chromosome , gene
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.