LymphedemaV1, Main, Exploration, bibRecord, 00CF98

46, XX, 15p+ documented as dup (17p) by fluorescence in situ hybridization

Identifieur interne : 00CF98 ( Main/Exploration ); précédent : 00CF97; suivant : 00CF99

46, XX, 15p+ documented as dup (17p) by fluorescence in situ hybridization

Auteurs : Nancy B. Spinner [États-Unis] ; Jaclyn A. Biegel [États-Unis] ; Lorraine Sovinsky [États-Unis] ; Donna Mcdonald-Mcginn [États-Unis] ; Kim Rehberg [États-Unis] ; Annette H. Parmiter [États-Unis] ; Elaine H. Zackai [États-Unis]

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1993-04-01.

RBID : ISTEX:2F02263C0EE8399E667C9617437CB2DAB8C49E47

Abstract

We report on a patient with a complex heart defect, short webbed neck, multiple other minor features, and a 46,XX,15p+ de novo karyotype. The enlarged short arm of the chromosome 15 was Distamycin‐DAPI and C‐band negative. Fluorescence in situ hybridization (FISH) using an alpha satellite probe from chromosome 15 demonstrated hybridization only to the normal 15. In situ hybridization using a set of probes that bind to the short arm (17p13) and centromere of chromosome 17 demonstrated that the extra material on chromosome 15, including the centromere, was derived from chromosome 17. Therefore, this patient has a duplication of the centromere and short arm of chromosome 17. Clinical manifestations in this patient were consistent with those in previously described patients with dup (17p). © 1993 Wiley‐Liss, Inc.

Url:

https://api.istex.fr/document/2F02263C0EE8399E667C9617437CB2DAB8C49E47/fulltext/pdf

DOI: 10.1002/ajmg.1320460116

Affiliations:

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

to stream Istex, to step Corpus: 001568
to stream Istex, to step Curation: 001568
to stream Istex, to step Checkpoint: 004F33
to stream Main, to step Merge: 00DA37
to stream Main, to step Curation: 00CF98

Le document en format XML

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<front><div type="abstract" xml:lang="en">We report on a patient with a complex heart defect, short webbed neck, multiple other minor features, and a 46,XX,15p+ de novo karyotype. The enlarged short arm of the chromosome 15 was Distamycin‐DAPI and C‐band negative. Fluorescence in situ hybridization (FISH) using an alpha satellite probe from chromosome 15 demonstrated hybridization only to the normal 15. In situ hybridization using a set of probes that bind to the short arm (17p13) and centromere of chromosome 17 demonstrated that the extra material on chromosome 15, including the centromere, was derived from chromosome 17. Therefore, this patient has a duplication of the centromere and short arm of chromosome 17. Clinical manifestations in this patient were consistent with those in previously described patients with dup (17p). © 1993 Wiley‐Liss, Inc.</div>
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46, XX, 15p+ documented as dup (17p) by fluorescence in situ hybridization

46, XX, 15p+ documented as dup (17p) by fluorescence in situ hybridization

Source :

Abstract

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

Le document en format XML

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