Two Cases of Partial Trisomy 4p and Partial Trisomy 14q
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We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.
Abstract
We present clinical and cytogenetic data on 2 cases of partial trisomy 4p and partial trisomy 14q. Both patients had an extra der(14)t(4;14)(p15.31;q12) chromosome due to a 3:1 segregation from a balanced translocation carrier mother. Array analyses indicated that their chromosomal breakpoints were similar, but there was no relationship between the 2 families. Both patients showed prominent growth retardation and psychomotor developmental delay. Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.
참고문헌 (14)
- Jalbert P, "Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing", Hum Genet, 55, pp.209~222 (1980)
- Wilson MG, "Inherited pericentric inversion of chromosome no. 4", Am J Hum Genet, 22, pp.679~690 (1970)
- Patel SV, "Clinical manifestations of trisomy 4p syndrome", Eur J Pediatr, 154, pp.425~431 (1995)
- Tschernigg M, "Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region", Genet Couns, 13, pp.29~33 (2002)
- Zahed L, "A new patient with pure trisomy 4p resulting from isochromosome formation and whole arm translocation", Am J Med Genet A, 128, pp.60~62 (2004)
- Takeno SS, "Duplication 4p and deletion 4p (Wolf-Hirschhorn syndrome) due to complementary gametes from a 3:1 segregation of a maternal balanced t(4;13)(p16;q11) translocation", Am J Med Genet A, 129, pp.180~183 (2004)
- Garcia-Heras J, "A rec(4) dup 4p inherited from a maternal inv(4)(p15q35): case report and review", Am J Med Genet, 109, pp.226~230 (2002)
- Liehr T, "Is there a yet unreported unbalanced chromosomal abnormality without phenotypic consequences in proximal 4p?", Cytogenet Genome Res, 132, pp.121~123 (2011)
- Dallapiccola B, "Trisomy 4p: five new observations and overview", Clin Genet, 12, pp.344~356 (1977)
- Eggermann T, "Mosaic tetrasomy 14pter-q13 due to a supernumerary isodicentric derivate of proximal chromosome 14q", Am J Med Genet A, 134, pp.305~308 (2005)
- Lemire EG, "Unusual phenotype in partial trisomy 14", Am J Med Genet, 87, pp.294~296 (1999)
- Monfort S, "Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci", Am J Med Genet A, 143, pp.382~384 (2007)
- Hirsch B, "Pericentric inversion of chromosome 4 giving rise to dup(4p) and dup(4q) recombinants within a single kindred", Am J Med Genet, 45, pp.5~8 (1993)
- Bartocci A, "Partial monosomy Xq(Xq23→qter) and trisomy 4p(4p15.33→pter) in a woman with intractable focal epilepsy, borderline intellectual functioning, and dysmorphic features", Brain Dev, 30, pp.425~429 (2008)