Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

Loeffler, Judith; Soelder, Elisabeth; Erdel, Martin; Utermann, Barbara; Janecke, Andreas R.; Duba, Hans-Christoph; Utermann, Gerd

doi:10.1002/ajmg.a.10902

Cited by 11 publications

(7 citation statements)

References 11 publications

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“…Some of known sSMCs(8) with breakpoints in 8p11 and 8q11 have not been associated with any abnormalities in their carriers (Nietzel et al 2001;Daniel and Malafiej 2003;Starke et al 2003;Bartsch et al 2005;Liehr et al 2006). In other patients with sSMCs(8), various clinical pictures have been observed (Blennow et al 1993;Plattner et al 1993;Butler et al 1995;Hastings et al 1999;Batanian et al 2000;Anderlid et al 2001;Loeffler et al 2003). Based on the comparison of clinical phenotypes of patients with trisomy of 8p23→q10 due to sSMCs(8) (Demori et al 2004) or with tri-and tetrasomy of region 8p21→q11 (Liehr et al 2006), we propose that corpus callosum, lower lip, and developmental delay result from the presence of these sSMCs.…”

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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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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“…Voullaire et al [2001] described another patient with a cardiac defect at birth and a mosaic SMR due to an inverted duplication 8p23.1 → pter, resulting in tetrasomy of this region. Loeffler et al [2003] report on a patient with Mullerian aplasia, renal and skeletal anomalies, and minor dysmorphic signs associated with ring chromosome 8p12q12 mosaicism, but clinical comparison is difficult due to the involvement of both p and q arms.…”

Section: Discussionmentioning

confidence: 99%

Supernumerary ring chromosome 8: Clinical and molecular cytogenetic characterization in a case report

Demori

Devescovi

Benussi

et al. 2004

American J of Med Genetics Pt A

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We report on a 3-year-old male with developmental delay, autistic behavior, and minor abnormalities consistent with trisomy 8 syndrome whose cytogenetic analysis revealed mosaicism for a supernumerary ring chromosome (SRC). Fluorescence in situ hybridization (FISH) studies, using centromeric and yeast artificial chromosome (YAC) probes, were performed to characterize further the supernumerary chromosome. The ring origin has been detected from the short arm of chromosome 8, resulting in r(8)(p10p23.1). Moreover, uniparental disomy (UPD) using microsatellite analysis was excluded. To our knowledge a total of 25 cases, confirmed by FISH, have been reported with either supernumerary marker or ring chromosome 8. We present a detailed clinical and molecular cytogenetic characterization of this additional case in order to better define the genotype-phenotype correlation.

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“…Small supernumerary ring 8 chromosomes, confirmed by FISH, have already been reported in several patients (Table I) [Blennow et al, 1993;Plattner et al, 1993;Daniel et al, 1994;Melnyk and Dewald, 1994;Butler et al, 1995;Spinner et al, 1995;Hastings et al, 1999;Batanian et al, 2000;Tonk et al, 2000;Bibas Bonet et al, 2001;Jalal et al, 2001;Nietzel et al, 2001;Loeffler et al, 2003]. There were 4 patients diagnosed prenatally and 15 postnatally.…”

Section: Discussionmentioning

confidence: 79%

Molecular cytogenetic characterization of two small chromosome 8 derived supernumerary mosaic markers

Herry

Morel

Bris

et al. 2004

American J of Med Genetics Pt A

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Two small supernumerary mosaic marker chromosomes (SMC) were identified by conventional cytogenetics, one prenatally, the other postnatally. Fluorescence in situ hybridization (FISH) techniques, including 24-color FISH, were applied to identify both SMCs and better characterize their constitution. Patient 1: a 29 year-old man, whose wife had a spontaneous abortion, was found to have a small ring of the pericentromeric region of chromosome 8 (47,XY,+r(8)(p11q11)/46,XY). Patient 2: a 37 year-old woman had amniocentesis. The fetus was found to have a SMC; its presence was confirmed postnatally. Several FISH techniques (24-color, whole chromosome paints, centromeres, telomeres, band 8p22) led to the identification of a small analphoid marker. The marker was an inversion-duplication for part of the short arm of chromosome 8 (47,XY,+inv dup (8)(p23pter)/46,XY). The 24-color FISH allowed us to conclude that both markers originated exclusively from chromosome 8. However, the structure and content of the markers were elucidated using other molecular cytogenetic techniques, showing their complementarity.

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Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

Cited by 11 publications

References 11 publications

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

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

Supernumerary ring chromosome 8: Clinical and molecular cytogenetic characterization in a case report

Molecular cytogenetic characterization of two small chromosome 8 derived supernumerary mosaic markers

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