Another Small Supernumerary Marker Chromosome (sSMC) Derived from Chromosome 2: Towards a Genotype/Phenotype Correlation

Mrasek, Kristin; Starke, Heike; Liehr, Thomas

doi:10.1369/jhc.4b6414.2005

Cited by 11 publications

(16 citation statements)

References 12 publications

(6 reference statements)

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“…We did not find any other publications reporting patients being trisomic for exactly the same region of chromosome 2 (3)(4)(5)(6)(7)(8)(9)(10). The duplication detected in our present case contains even less genetic material than those previously reported.…”

Section: Discussioncontrasting

confidence: 67%

“…However, if there is any correlation with the renal symptoms described in (4) is impossible to conclude. A review of previously published cases with constitutional duplication of region 2p11.2→q11.2 demonstrated variability between patients harboring and lacking clinical findings (3,4,5,6,7,8,9,10). The duplication detected in our present case contains even less genetic material than those previously reported.…”

Section: Discussionmentioning

confidence: 99%

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dup(19)(q12q13.2): Array‐based Genotype–Phenotype Correlation of a New Possibly Obesity‐related Syndrome

Davidsson¹,

Jahnke²,

Forsgren³

et al. 2010

Obesity

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Small supernumerary marker chromosomes (sSMCs) derived from the near‐centromeric area of chromosome 2 are very rare. In addition, duplications of the 2p11.2→q11.2 region have displayed considerable variability between patients harboring and lacking clinical findings. Moreover, constitutional duplication of the 19q12→q13.2 region has previously only been described in two cases and was associated with delay of developmental milestones, corpus callosum anomalies, and obesity. Herein, we present a genotype–phenotype correlation in a patient harboring two sSMCs derived from chromosomes 2 and 14 or 22, respectively. The DNA was studied using G‐banding, fluorescence in situ hybridization techniques, and array‐based comparative genomic hybridization. A 48,XX,+der(2)del(2)(p11)del(2)(q11.2),+der(14)t(14;19)(q11;q12)del(19)(q13.31) or 48,XX,+der(2)del(2)(p11)del(2)(q11.2),+der(22)t(22;19)(q11;q12)del(19)(q13.31) was detected in the patient. The sSMC 14;19 or 22;19, with its centromere originating from either chromosome 14 or 22, encompassed a 13.56 megabase (Mb) 19q derived region, harboring 263 genes, and the sSMC 2 a 2.71 Mb region including 29 genes. The patient had symptoms including a ventral septal defect, bilateral grade IV urinary reflux, corpus callosum agenesis, microphthalmia, and obesity. The 19q segment contained the genes AKT2, CEACAM1, CEBPA, LIPE, and TGFB1 which are involved in adipose tissue homeostasis and insulin resistance, and could potentially contribute to the obese phenotype observed. Array‐based genetic characterization and long‐term clinical evaluation with attention toward weight gain in patients with chromosome 19q duplications might in the future lead to the description of a obesity‐associated genetic syndrome, something that could have implications in management and treatment of patients carrying a dup(19)(q12q13.2). Whether the der(2)(p11q11.2) contributes to the phenotype remains inconclusive.

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Section: Discussioncontrasting

confidence: 67%

Section: Discussionmentioning

confidence: 99%

dup(19)(q12q13.2): Array‐based Genotype–Phenotype Correlation of a New Possibly Obesity‐related Syndrome

Davidsson¹,

Jahnke²,

Forsgren³

et al. 2010

Obesity

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“…Patient 6 (see Table 1) presented a mosaicism with an extra marker chromosome 2 composed of euchromatic material derived from centromerenear sequence 2p11.2 to sequence 2q13. Clinical consequences of this very rare aberration (a dozen of cases have been reported) are described as inconsistent, but Mrasek et al previously observed an association between the presence of sequence 2p11.2 and clinical abnormalities [12]. Indeed this patient presented behavior problems and learning troubles associated with an attention-deficit hyperactivity disorder.…”

Section: Discussionmentioning

confidence: 91%

Karyotyping, is it Worthwhile in Transsexualism?

Inoubli

Cuypere

Rubens

et al. 2011

The Journal of Sexual Medicine

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Introduction Karyotyping is often performed in transsexual individuals. Aim Quantification and characterization of karyotype findings and abnormalities in transsexual persons. Main Outcome Measures Karyotypes were listed both in male-to-female and in female-to-male transsexual persons. Methods The data were collected through a retrospective study. Results Karyotypes of 368 transsexual individuals (251 male-to-female, 117 female-to-male) are described. Normal findings were found in 97.55%. Prevalence of abnormal karyotypes was 3.19% among male-to-female, and 0.85% among female-to-male transsexuals. Nine karyotypes showed variations; Klinefelter syndrome was confirmed in three persons, whereas others displayed autosomal aberrations. Conclusion Karyotyping is only of very limited information in the transsexual population.

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“…To date, 17 sSMCs(2) with known clinical significance have been described. None of the SMCs(2) reported in the literature contained the chromosome region present in the SMC(2) in patient RS (Plattner et al 1993;Petit and Fryns 1997;Ostroverkhova et al 1999;Villa et al 2001;Giardino et al 2002;Lasan et al 2003;Starke et al 2003;Guancialli-Franci et al 2004;Mrasek et al 2005). In addition, a patient with trisomy 2q35-q37 (due to insertion of 2q material into 17q25) had a few similar clinical symptoms, such as psychomotor retardation, speech delay, short neck and fingers (found in the presented case), suggesting that they are consequences of the additional copy of this region of chromosome 2 (Fritz et al 1999).…”

Section: Discussionmentioning

confidence: 99%

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8,18, and 21 in three patients

Pietrzak¹,

Mrasek

Obersztyn³

et al. 2007

J Appl Genet

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Small supernumerary marker chromosomes (sSMCs) are a morphologically heterogeneous group of additional structurally abnormal chromosomes that cannot be identified unambiguously by conventional banding techniques alone. Molecular cytogenetic methods enable detailed characterization of sSMCs; however, in many cases interpretation of their clinical significance is problematic. The aim of our study was to characterize precisely sSMCs identified in three patients with dysmorphic features, psychomotor retardation and multiple congenital anomalies. We also attempted to correlate the patients' genotypes with phenotypes by inclusion of data from the literature. The sSMCs were initially detected by G-banding analysis in peripheral blood lymphocytes in these patients and were subsequently characterized using multicolor fluorescence in situ hybridization (M-FISH), (sub)centromere-specific multicolor FISH (cenM-FISH, subcenM-FISH), and multicolor banding (MCB) techniques. Additionally, the sSMCs in two patients were also studied by hybridization to whole-genome bacterial artificial chromosome (BAC) arrays (array-CGH) to map the breakpoints on a single BAC clone level. In all three patients, the chromosome origin, structure, and euchromatin content of the sSMCs were determined. In patient RS, only a neocentric r(2)(q35q36) was identified. It is a second neocentric sSMC(2) in the literature and the first marker chromosome derived from the terminal part of 2q. In the other two patients, two sSMCs were found, as M-FISH detected additional sSMCs that could not be characterized in G-banding analysis. In patient MK, each of four cell lines contained der(4)(:p11.1-->q12:) accompanied by a sSMC(18): r(18)(:p11.2-->q11.1::p11.2-->q11.1:), inv dup(18)(:p11.1-->q11.1::q11.1-->p11.1:), or der(18) (:p11.2-->q11.1::q11.1-->p11.1:). In patient NP, with clinical features of trisomy 8p, three sSMCs were characterized: r(8)(:p12-->q11.1::q11.1-->p21:) der(8) (:p11.22-->q11.1::q11.1-->p21::p21-->p11.22:) and der(21)(:p11.1-->q21.3:). The BAC array results confirmed the molecular cytogenetic results and refined the breakpoints to the single BAC clone resolution. However, the complex mosaic structure of the marker chromosomes derived from chromosomes 8 and 18 could only be identified by molecular cytogenetic methods. This study confirms the usefulness of multicolor FISH combined with whole-genome arrays for comprehensive analyses of marker chromosomes.

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Another Small Supernumerary Marker Chromosome (sSMC) Derived from Chromosome 2: Towards a Genotype/Phenotype Correlation

Cited by 11 publications

References 12 publications

dup(19)(q12q13.2): Array‐based Genotype–Phenotype Correlation of a New Possibly Obesity‐related Syndrome

dup(19)(q12q13.2): Array‐based Genotype–Phenotype Correlation of a New Possibly Obesity‐related Syndrome

Karyotyping, is it Worthwhile in Transsexualism?

Molecular cytogenetic characterization of eight small supernumerary marker chromosomes originating from chromosomes 2, 4, 8,18, and 21 in three patients

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