LymphedemaV1, Main, Exploration, bibRecord, 00C759

A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome

Identifieur interne : 00C759 ( Main/Exploration ); précédent : 00C758; suivant : 00C760

A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome

Auteurs : R. P. Erickson [États-Unis] ; L. Hudgins [États-Unis] ; J. F. Stone ; S. Schmidt ; C. Wilke ; T. W. Glover

Source :

Cytogenetics and cell genetics [ 0301-0171 ] ; 1995.

RBID : Pascal:95-0482507

Descripteurs français

Pascal (Inist)
- Homme, Translocation chromosomique, Chromosome Y anormal, Chromosome E16 anormal, Point cassure, Bonnevie Ulrich syndrome, Turner syndrome, Lymphoedème, Nouveau né, Gonade, Anomalie différenciation sexuelle.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Abnormal E16 chromosome, Abnormal Y chromosome, Bonnevie Ulrich syndrome, Breakpoint, Chromosome translocation, Gonad, Human, Lymphedema, Newborn, Turner syndrome.

Abstract

A male patient with Turner-like hydrops in the newborn period (Bonnevie-Ullrich syndrome) was studied. The karyotype was 46,X,t(Y ;16)(q11.2 ;q24) in 100 cells. Chromosome painting with the heterochromatic Y chromosome-specific long arm repeat DYZ2 disclosed that all the hybridization was on the derivative 16. This was confirmed by chromosome painting with DYZI, the other major Y long arm heterochromatic repeat, and DYZ3, the Y alphoid, centromeric repeat which showed chromosomal separation of the 2 stained regions. To further localize the breakpoint, FISH was performed using individual YACs from a Y-YAC contig (Foote et al., 1992). This disclosed two YACs (yOX111 and yOX123) which hybridized to both the Y and der16 chromosomes. The YACS spanning the translocation breakpoint region were located just proximal to the Y heterochromatin boundary. The recent discovery of a candidate gene for the azoospermia factor (AZF) in this region (Ma et al., 1993) suggests the possibility that there are several Y-expressed genes adjacent to the heterochromatin boundary (as there are near the pseudoautosomal boundary) which may include a gene involved with lymphedema which is disrupted by the translocation in this patient.

Affiliations:

États-Unis

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to stream PascalFrancis, to step Corpus: 000C37
to stream PascalFrancis, to step Curation: 000E71
to stream PascalFrancis, to step Checkpoint: 000C62
to stream Main, to step Merge: 00D091
to stream Main, to step Curation: 00C759

Le document en format XML

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<term>Chromosome translocation</term>
<term>Gonad</term>
<term>Human</term>
<term>Lymphedema</term>
<term>Newborn</term>
<term>Turner syndrome</term>
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<term>Translocation chromosomique</term>
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<term>Bonnevie Ulrich syndrome</term>
<term>Turner syndrome</term>
<term>Lymphoedème</term>
<term>Nouveau né</term>
<term>Gonade</term>
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<front><div type="abstract" xml:lang="en">A male patient with Turner-like hydrops in the newborn period (Bonnevie-Ullrich syndrome) was studied. The karyotype was 46,X,t(Y ;16)(q11.2 ;q24) in 100 cells. Chromosome painting with the heterochromatic Y chromosome-specific long arm repeat DYZ2 disclosed that all the hybridization was on the derivative 16. This was confirmed by chromosome painting with DYZI, the other major Y long arm heterochromatic repeat, and DYZ3, the Y alphoid, centromeric repeat which showed chromosomal separation of the 2 stained regions. To further localize the breakpoint, FISH was performed using individual YACs from a Y-YAC contig (Foote et al., 1992). This disclosed two YACs (yOX111 and yOX123) which hybridized to both the Y and der16 chromosomes. The YACS spanning the translocation breakpoint region were located just proximal to the Y heterochromatin boundary. The recent discovery of a candidate gene for the azoospermia factor (AZF) in this region (Ma et al., 1993) suggests the possibility that there are several Y-expressed genes adjacent to the heterochromatin boundary (as there are near the pseudoautosomal boundary) which may include a gene involved with lymphedema which is disrupted by the translocation in this patient.</div>
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A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome

A "balanced" Y;16 translocation associated with Turner-like neonatal lymphedema suggests the location of a potential anti-Turner gene on the Y chromosome

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri