ISCATECH   Bedoukian   RussellIPM   Piezoelectric Micro-Sprayer


Home
Animal Taxa
Plant Taxa
Semiochemicals
Floral Compounds
Semiochemical Detail
Semiochemicals & Taxa
Synthesis
Control
Invasive spp.
References

Abstract

Guide

Chemtica
Biochemtech
AlphaScents
U-Chemo
BIOHOME
Print
Email to a Friend
Kindly Donate for The Pherobase

« Previous AbstractUllrich-Turner syndrome and neurofibromatosis-1    Next AbstractAutosomal recessive severe dwarfism in a Sicilian girl: a new form of osteodysplastic primordial dwarfism? »

Am J Med Genet


Title:Familial ring (19) chromosome mosaicism: case report and review
Author(s):Flejter, W. L. Finlinson, D. Root, S. Nguyen, W. Brothman, A. R. Viskochil, D.
Address:Departments of Pediatrics, University of Utah 84132, USA.
Year:1996 Dec 18
Journal Title:Am J Med Genet
Page Number:276-80
Language:eng
Volume:66
Issue:3
ISSN/ISBN:0148-7299 (Print). 0148-7299 (Linking)
Abstract:Ring (19) chromosomal mosaicism has been identified in a 14-month-old girl referred for cytogenetic evaluation due to microcephaly and developmental delay with autistic-like mannerisms. An analysis of her peripheral blood lymphocytes showed a 46,XX,r(19) cell line in 119/121 of cells examined. Of the two remaining cells, one had a normal female chromosome complement and the other showed loss of one of the chromosome 19 homologs. Further analysis by fluorescence in situ hybridization using an all human telomere probe showed the presence of a single hybridization signal on the r(19) chromosome. Subsequent cytogenetic characterization of cells derived from the patient's phenotypically normal mother also demonstrated the presence of a ring 19 chromosome in 4/100 cells. The remaining cells had a normal female chromosome complement. These findings represent the first reported case of familial ring 19 mosaicism. The cytogenetic and clinical findings in these two individuals are discussed in relation to six previously reported cases of de novo ring chromosome 19 mosaicism.

 
Back to top
 
Citation: El-Sayed AM 2021. The Pherobase: Database of Pheromones and Semiochemicals. <http://www.pherobase.com>.
© 2003-2021 The Pherobase - Extensive Database of Pheromones and Semiochemicals. Ashraf M. El-Sayed.
Page created on 24-01-2021