Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies

Melnyk, Andrew R.; Dewald, Gordon W.

doi:10.1002/ajmg.1320500103

Cited by 26 publications

(30 citation statements)

References 4 publications

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“…Patients with a supernumerary marker of a small pericentric region of chromosome 8 have been reported previously [Melnyk and Dewald, 1994;Spinner et al, 1995;Butler et al, 1995]. These patients have a phenotype that is nonspecific but is described as consistent with that seen in patients with mosaic trisomy 8 syndrome.…”

Section: Discussionmentioning

confidence: 67%

Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update

1997

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A father and his 2 daughters were previously determined to carry a small, supernumerary marker chromosome [Chudley et al., 1983]. The origin of this marker could not be determined by standard cytogenetic techniques. In this study, fluorescence in situ hybridization (FISH) studies identified the marker chromosome as a pericentric derivative of chromosome 8. The father has low grade mosaicism for this marker and is phenotypically normal. Both daughters are non-mosaic and show developmental delays and somewhat differing clinical findings. The phenotypes of the 2 sisters are compared with those previously reported for supernumerary der(8) patients. This is the first report of familial transmission of a supernumerary der(8) marker chromosome.

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Section: Discussionmentioning

confidence: 67%

Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update

1997

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“…UPD was not present in either case. Eleven other cases with ring chromosomes derived from chromosome 8 have been described [Plattner et al, 1993;Daniel et al, 1994;Melnyk and Dewald, 1994;Butler et al, 1995;Hùjbjerg and Friedrich, 1995;Spinner et al, 1995;Rothenmund et al, 1997;Tonk et al, 2000]. In one family, the ring was inherited from the father [Rothenmund et al, 1997]; all other cases were de novo.…”

Section: Discussionmentioning

confidence: 94%

Detailed characterization of 12 supernumerary ring chromosomes using micro‐FISH and search for uniparental disomy

et al. 2001

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Twelve patients with varying degrees of mosaicism for a supernumerary ring chromosome were studied. The ring chromosomes were characterized using microdissection in combination with degenerate nucleotide-primed polymerase chain reaction (PCR) and reverse painting (micro-FISH). This method made it possible to determine the chromosomal origin of the ring chromosomes in detail, and thus to compare the phenotypes of similar cases. Eleven of the marker chromosomes were derived from the most proximal part of 1p, 3p, 3q, 5p, 7q, 8p, 8q, 9p, 10p and 20p. One marker chromosome had a complex origin, including the proximal and the most distal part of 20q. Eight of the families were also investigated for uniparental disomy (UPD) using microsatellite analysis. One case with maternal UPD 9 was found in a child with a ring chromosome derived from chromosome 9, r(9)(p10p12).

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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: 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

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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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Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies

Cited by 26 publications

References 4 publications

Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update

Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update

Detailed characterization of 12 supernumerary ring chromosomes using micro‐FISH and search for uniparental disomy

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

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