Phenotypic and Cytogenetic Variety of Pure Partial Trisomy
-
Mehrdad Noruzinia
,
Genevieve Lefort
,
Anne Marie Chaze
,
Jacques Puechberty
,
Franck Pellestor
,
Patricia Blanchet
,
Valerie Cacheux
,
Pierre Sarda
Abstract
Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocations and consequently the phenotype of patients is not typical of pure partial trisomy 16p. R-banding and fluorescence in situ hybridization (FISH) in our patients were in favour of de novo pure partial trisomy of 16p. Furthure clinical and paraclinical analysis of our three cases in addition to a review of literature and analysis of published clinical and cytogenetic data on five cases of pure partial duplications of chromosome 16p reported until now lead to the delineation of three groups of duplications. Patients with short proximal 16p11~p12 euchromatic duplication considered as "silent" duplication and no clinical anomaly are included in the first group. The second group with a larger 16p11-p12~p13 duplication is caracterised by a particular phenotype including severe mental retardation, dysmorphism, variable malformations and recurrent infections. The third group has terminal 16p13-pter duplication and is not well defined to date. Based on our cases and reported cases of pure partial trisomy of 16p in the literature we propose diagnostic measures in case of an elongated 16p chromosome encountered in prenatal chromosome analysis.
Schinzel A. Catalogue of unbalanced chromosome aberrations in man. New York: Walter de Gruyter; 1984.
Preis W, Barbi G, Liptay S, Kennerknecht I, Schwemmle S, Pohlandt F. X/autosome translocation in three generations ascertained through an infant with trisomy 16p due to failureof spreading of X-inactivation. Am J Med Genet 1996;61(2): 117-21.
Carrasco Juan JL, Cigudosa JC, Otero Gómez A, AcostaAlmeida MT, García Miranda JL. De novo trisomy 16p. Am J Med Genet 1997; 68(2): 219-21.
Dallapiccola B, Curatolo P, Balestrazzi P. 'De novo' trisomy 16q11 to pter. Hum Genet 1979; 49(1): 1-6.
Gabarrón Llamas J, Cabrerizo Portero D, Montserrat Bernal F, Rodríguez Costa T, Cabrerizo Merino C, Rodríguez López F. "De novo" partial trisomy 16p (author's transl). An Esp Pediatr 1981; 15(6): 587-91.
Hebebrand J, Martin M, Körner J, Roitzheim B, de Braganca K, Werner W, et al. Partial trisomy 16p in an adolescent with autistic disorder and Tourette's syndrome. Am J Med Genet 1994; 54(3): 268-70.
Natacci F, Finelli P, Gottardi G, Zuccarini C, Giardino D, Sala M, et al. FISH characterization of 16p11.2-p12.2 tandemduplication in a dysmorphic patient with severe mental retardation and autistic behaviuor. [online] 2002 May 25-
; European Society of Human Genetics Posters: P 15 Mental Retardation. Available from:URL:http://www.medacad.org/eshg/abstracts/posters15.htm
Rooney DE, Czepulkowski BH, editors. Human Cytogenetics: A Practical Approach: Constitutional Analysis. 2nd ed. New York: Oxford University Press; 2001.
Engelen JJ, de Die-Smulders CE, Dirckx R, Verhoeven WM, Tuinier S, Curfs LM, et al. Duplication of chromosome region (16)(p11.2 --> p12.1) in a mother and daughter with mild mental retardation. Am J Med Genet 2002; 109(2): 149-53.
Tschernigg M, Petek E, Leonhardtsberger A, Wagner K, Kroisel PM. Terminal tandem duplication of 16p: a casewith "pure" partial trisomy (16)(pter-->p13). Genet Couns2002; 13(3): 303-7.
Stéphane P, Geneviève L. Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome. Prenat Diagn 1999; 19(2): 181-2.
Jalal SM, Day DW, Garcia M, Benjamin T, Rogers J. Familial transmission of 16p trisomy in an infant. Hum Genet 1989; 81(2): 196-8.
Barber JC, Reed CJ, Dahoun SP, Joyce CA. Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level. Hum Genet 1999; 104(3): 211-8.
Arn PH, Younie L, Russo S, Zackowski JL, Mankinen C, Estabrooks L. Reproductive outcome in 3 families with a satellited chromosome 4 with review of the literature. Am J Med Genet 1995; 57(3): 420-4.
Babu VR, Roberson JR, Van Dyke DL, Weiss L. Interstitial deletion of 4q35 in a familial satellited 4q in a child with developmental delay. Am J Hum Genet; 41(Suppl): A113.
Mihelick K, Jackson-Cook C, Hays P, Flannery DB, Brown JA. Craniorachischisis in a fetus with familial satellited 4q. Am J Hum Genet Suppl 1984; 36: 105S.
Miller I, Songster G, Fontana S, Hsieh CL. Satellited 4q identified in amniotic fluid cells. Am J Med Genet 1995; 55(2): 237-9.
Shah HO, Verma RS, Conte RA, Chester M, Shklovskaya TV, Kleyman SM, et al. Fishing for the origin of satellite on the long arm of chromosome 4. Am J Hum Genet Suppl 1997; 61: A375.
Faivre L, Radford I, Viot G, Edery P, Munnich A, Tardieu M, et al. Cerebellar ataxia and mental retardation in a child with an inherited satellited chromosome 4q. Ann Genet. 2000; 43(1): 35-8.
| Files | ||
| Issue | Vol 47, No 3 (2009) | |
| Section | Original Article(s) | |
| Keywords | ||
| Chromosome 16 pure partial trisomy interstitial duplication | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
