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Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH).
Am J Med Genet. 1993 Mar 15; 45(6):770-3.AJ

Abstract

We describe a girl with some manifestations of the dup (9p) syndrome. High-resolution Giemsa-banded karyotype of her lymphocytes documented that she was mosaic with 80% of cells being 46,XX, and 20% 46,XX,-20, + der(20;?) (p13;?). The additional material on 20p could not be defined clearly by high-resolution Giemsa banding, as the banding pattern appeared consistent with either distal 9p or distal 13q. In order to make a definitive cytogenetic diagnosis, we used fluorescence in situ hybridization (FISH) with a chromosome 9 specific DNA library to establish that the origin of the additional chromosomal material on chromosome 20 was from 9p. FISH used in this situation enabled us to counsel the family specifically regarding the prognosis and manifestations of distal 9p duplication.

Authors+Show Affiliations

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

8456860

Citation

Petty, E M., et al. "Mosaic Dup (9p) Diagnosed By Fluorescence in Situ Hybridization (FISH)." American Journal of Medical Genetics, vol. 45, no. 6, 1993, pp. 770-3.
Petty EM, Gibson LH, Breg WR, et al. Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH). Am J Med Genet. 1993;45(6):770-3.
Petty, E. M., Gibson, L. H., Breg, W. R., Burns, J. P., & Yang-Feng, T. L. (1993). Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH). American Journal of Medical Genetics, 45(6), 770-3.
Petty EM, et al. Mosaic Dup (9p) Diagnosed By Fluorescence in Situ Hybridization (FISH). Am J Med Genet. 1993 Mar 15;45(6):770-3. PubMed PMID: 8456860.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH). AU - Petty,E M, AU - Gibson,L H, AU - Breg,W R, AU - Burns,J P, AU - Yang-Feng,T L, PY - 1993/3/15/pubmed PY - 1993/3/15/medline PY - 1993/3/15/entrez SP - 770 EP - 3 JF - American journal of medical genetics JO - Am J Med Genet VL - 45 IS - 6 N2 - We describe a girl with some manifestations of the dup (9p) syndrome. High-resolution Giemsa-banded karyotype of her lymphocytes documented that she was mosaic with 80% of cells being 46,XX, and 20% 46,XX,-20, + der(20;?) (p13;?). The additional material on 20p could not be defined clearly by high-resolution Giemsa banding, as the banding pattern appeared consistent with either distal 9p or distal 13q. In order to make a definitive cytogenetic diagnosis, we used fluorescence in situ hybridization (FISH) with a chromosome 9 specific DNA library to establish that the origin of the additional chromosomal material on chromosome 20 was from 9p. FISH used in this situation enabled us to counsel the family specifically regarding the prognosis and manifestations of distal 9p duplication. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8456860/Mosaic_dup__9p__diagnosed_by_fluorescence_in_situ_hybridization__FISH__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1993&volume=45&issue=6&spage=770 DB - PRIME DP - Unbound Medicine ER -