Identification of a supernumerary marker derived from chromosome 17 using FISH

Rosenberg, Carla; Borovik, Cleide Largman; Canonaco, Rosane S.; Sichero, Laura; Queiroz, Ana Paula Spolidoro; Vianna‐Morgante, Angela Maria

doi:10.1002/ajmg.1320590107

Cited by 15 publications

(13 citation statements)

References 6 publications

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“…(Table IX) Three cases have been reported, one an antenatally ascertained de novo mosaic which at 2 years of age was described as slightly mentally retarded [Brøndum-Nielsen and Mikkelsen, 1995, case 11]. The second case, also a de novo mosaic, was ascertained in a patient with obesity, short stature and mental retardation [Rosenberg et al, 1995]. The third, a de novo mosaic small ring(17), was shown to be positive with the 17 centromere probe as well as the D17S29 (Smith Magenis) probe but negative with the D17S379 (MillerDieker) cosmid.…”

Section: Bmentioning

confidence: 99%

FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

1998

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Using fluorescence in situ hybridization (FISH), supernumerary marker chromosomes (SMC) from all the human autosomes except chromosome 5, have now been described, most being derived from the acrocentric autosomes. This review summarizes the results of 168 cases of autosomal SMC excluding those from chromosome 15 where FISH has been used to define the chromosomal origin of the SMC and from which phenotypic information is available. Although the number of reported cases from some of the chromosomal SMC groups remains small, the pooled data suggest that the risk of an abnormal phenotype associated with a randomly ascertained de novo SMC derived from the acrocentric autosomes (excluding 15s) is approximately 7% compared with approximately 28% for SMCs derived from the nonacrocentric autosomes.

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Section: Bmentioning

confidence: 99%

FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

1998

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“…Although there are well-characterized syndromes associated with deletions and duplications of proximal 17p that are mediated by LCRs, molecular studies of trisomy 17p10-p11.2 due to SMC(17) are limited to only a few cases. At least nine clinically affected individuals have been reported with SMC(17) [Friedman et al, 1992;Rosenberg et al, 1995;Fagan and Edwards, 1997;Morrison et al, 1997;Kozma et al, 1998;Kulharya et al, 1998;Stankiewicz et al, 2001;Dupont et al, 2003;Starke et al, 2003;Liehr et al, 2004;; also see: http://mti-n.mti.uni-jena.de/$huwww/MOL_ ZYTO/sSMC.htm]. The phenotype in individuals reported with SMCs17 is determined by the size and the gene content of the marker chromosome, and the extent of the mosaicism.…”

Section: Introductionmentioning

confidence: 99%

Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

Yatsenko

Treadwell-Deering

Krull

et al. 2005

American J of Med Genetics Pt A

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The unstable, gene-rich chromosome region 17p11.2-p12 is associated with various structural aberrations including supernumerary marker chromosomes (SMCs). In some cases, SMC(17)s utilize the same substrates for recombination as the common recurrent 17p11.2 and 17p12 rearrangements. We report on a 9-year-old girl with a de novo mosaic SMC(17). The der(17) encompasses genetic material from 17p10-p11.2 and is present in 97% of peripheral blood lymphocytes and in 79% of buccal cells. The patient has few features similar to individuals with duplication 17p11.2 including mental retardation, language impairment, and sleep disturbances but has normal growth, and no structural abnormalities of the heart, kidneys, or brain. She has no substantial behavioral abnormalities or dysmorphic features. Molecular analyses determined that the der(17) contains RAI1 but not PMP22. We found one chromosome breakpoint within the centromere and the second breakpoint within the distal Smith-Magenis syndrome low-copy repeat (distal SMS-REP). Recently we characterized the breakpoints of three other marker chromosomes originating from the proximal short arm of chromosome 17. In all four cases, one breakpoint maps within the centromere and in three cases the second breakpoint maps within a low-copy repeat. We thus propose that genome architecture may play a significant role in the formation of marker chromosomes. We present the cytogenetic, molecular, and clinical data of this patient and compare our results with those of patients with dup(17)(p11.2p11.2) syndrome and other patients with SMC(17).

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“…The coexistence of Klinefelter syndrome in this case was felt to be of minor significance in relation to the phenotype. Rosenberg et al [1995] described a 15-year-old girl with mental retardation, obesity, short stature, minor anomalies, and a dot-like marker chro-mosome. The marker chromosome was identified by a FISH probe to be derived from the pericentromeric region of chromosome 17.…”

Section: Discussionmentioning

confidence: 99%

“…Alternatively, since FISH was not used in the paper by Butt et al [1992], the identification of the partial trisomy as derived from chromosome 17 has not been confirmed by molecular techniques and is open for question. The patient described by Rosenberg et al [1995] had a very small dot-like marker comprised primarily of noncoding centromeric sequences. Fewer genes are likely to be present on that marker, perhaps resulting in a mild phenotype compared to our patient.…”

Section: Discussionmentioning

confidence: 99%

Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA

et al. 1998

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We describe a 38-year-old adult who has a supernumerary marker chromosome in 40% of metaphase cells which was identified by reverse in situ hybridization with a DNA probe made by microdissection to be derived from chromosome 17. The breakpoints are estimated by G-banding and fluorescence in situ hybridization (FISH) to consist of the region from 17p11.1 to proximal 17q21. The propositus displayed severe growth retardation, kyphoscoliosis, bilateral cataracts, severe calcaneovalgus deformity of the feet, dysmorphic facies, profound mental retardation, and multiple medical problems requiring ongoing medical management. These problems included a mitral valve prolapse with regurgitation, recurrent upper and lower respiratory tract infections, and severe respiratory insufficiency. The relatively long survival of this patient enabled us to describe the natural history of this rare chromosomal mutation.

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Identification of a supernumerary marker derived from chromosome 17 using FISH

Abstract: We report on a 15-year-old girl with mental retardation, obesity, short stature and minor anomalies. She had 47 chromosomes with a minute extra ring which was identified by FISH to be derived from chromosome 17.

Cited by 15 publications

References 6 publications

FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

FISH and molecular studies of autosomal supernumerary marker chromosomes excluding those derived from chromosome 15: II. Review of the literature

Trisomy 17p10‐p12 due to mosaic supernumerary marker chromosome: Delineation of molecular breakpoints and clinical phenotype, and comparison to other proximal 17p segmental duplications

Characterization of a supernumerary marker derived from chromosome 17 by microdissection in an adult with MR/MCA

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