Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes

Plattner, Rina; Heerema, Nyla A.; Yurov, Yuri B.; Palmer, Catherine G.

doi:10.1007/bf00222713

Cited by 38 publications

(32 citation statements)

References 37 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Fluorescence in situ hybridization (FISH) with chromosome-specific alpha-satellite probes was performed with a modification of the cross-hybridization protocol of Plattner et al [1993]. Probes for the centromeres of chromosomes 17(D17Z1), 18(D18Z1), 13/21(D13Z1/ D21Z1), and 1,5,19(D1Z7/D5Z2/D19Z3) were hybridized under standard conditions, followed by a less stringent posthybridization wash in 2 × SSC for 5 min at room temperature.…”

Section: Cytogenetic and Fish Studiesmentioning

confidence: 99%

Identification of an unusual marker chromosome by spectral karyotyping

Huang

Ning

Lamb³

et al. 1998

Am. J. Med. Genet.

View full text Add to dashboard Cite

We ascertained a newborn girl with multiple congenital anomalies including severe hypotonia, cardiovascular defects, hearing loss, central nervous system anomalies, and facial anomalies. The infant died at 12 days. Cytogenetic analysis showed a de novo supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) with a combination of chromosome specific alpha-satellite probes and an all-human centromere probe failed to show hybridization to the marker, indicating that the marker chromosome lacked detectable alpha satellite sequences. Spectral karyotyping (SKY) was performed and showed that the marker was chromosome 15 in origin. This was confirmed by FISH with a 15q specific subtelomerie probe, which showed hybridization to both ends of the marker chromosome. Based on FISH information and G-banding pattern, the marker was determined to be an inverted duplication of 15q25-qter, leading to partial tetrasomy for chromosome 15. Although the marker chromosome lacked detectable centromeric alpha-satellite sequences, it seemed to have a functional centromere as it is mitotically stable. This observation is consistent with previous studies on acentric marker chromosomes, which suggested that the DNA sequence at the breakpoint could function similarly to alpha-satellite sequences once activated through marker formation.

show abstract

Section: Cytogenetic and Fish Studiesmentioning

confidence: 99%

Identification of an unusual marker chromosome by spectral karyotyping

Huang

Ning

Lamb³

et al. 1998

Am. J. Med. Genet.

View full text Add to dashboard Cite

show abstract

“…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: 52%

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

View full text Add to dashboard Cite

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.

show abstract

“…At present, it is well established that different molecular cytogenetic methods are required to determine the origin and composition of SMCs. Many published studies have described methods to identify and specify the structure of this chromosomal abnormality (Plattner et al, 1993;Daniel et al, 1994;Crolla et al, 1998;Verschraegen-Spae et al, 1998;Uhrig et al, 1999;Bibas Bonet et al, 2001;Woo et al, 2003;Liehr et al, 2004a, b).…”

Section: Discussionmentioning

confidence: 99%

Characterisation of supernumerary chromosomal markers: a study of 13 cases

Douet‐Guilbert

Marical

Pinson

et al. 2007

Cytogenet Genome Res

View full text Add to dashboard Cite

Marker chromosomes are defined as ‘structurally abnormal chromosomes in which no part can be identified’ (ISCN 1995). Supernumerary marker chromosomes (SMC) are ‘additional markers’ whose origin and composition cannot be determined by conventional cytogenetics. Molecular cytogenetic methods are necessary to identify these additional chromosomal markers. In one third, the SMCs are clinically well-defined in the literature, the remaining two thirds present a major problem for genetic counselling in prenatal diagnosis. At present, different molecular cytogenetic methods are used to determine the origin of SMCs. In this work, we studied 13 SMCs detected by RHG-banding, completed by C-banding and/or NOR-staining. 24-color FISH was used as the primary technique when the chromosomal origin was unknown. Targeted FISH procedures with specific probes (whole chromosome painting, centromeric probe, locus-specific identifier, BAC, etc.) were then performed to confirm and/or specify the chromosomal material present in the SMC. Seven SMCs were found to be associated with phenotypic abnormalities. Five derived from autosomes and two from gonosomes; these are: der(12)t(4;12), dic(15), i(18p), r(19), der(22)t(11;22), r(X), and der(Y). Two markers, r(8) and idic(15), were identified during investigations of infertile couples. Three cases seemed to be phenotypically normal. Four were discovered prenatally: r(2) and r(19) referred for elevated maternal serum markers, der(13/21) referred for advanced maternal age. The fourth SMC, der(14/22), was found during familial investigation following the identification of the same marker in an infertile son. The precise characterisation of the SMCs is of utmost importance for genetic counselling, especially in prenatal diagnosis.

show abstract

Efficient identification of marker chromosomes in 27 patients by stepwise hybridization with alpha-satellite DNA probes

Cited by 38 publications

References 37 publications

Identification of an unusual marker chromosome by spectral karyotyping

Identification of an unusual marker chromosome by spectral karyotyping

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

Characterisation of supernumerary chromosomal markers: a study of 13 cases

Contact Info

Product

Resources

About