Characterization by fluorescence and electron microscopy in situ hybridization of a double Y isochromosome

Journal Article · Fri Jun 14 00:00:00 EDT 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960614)63:3<454::AID-AJMG7>3.0.CO;2-R· OSTI ID:508396

Fetni, R; Lemieux, N; Richer, C L ^[1]

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1. Universite de Montreal, Quebec (Canada); and others

A patient with mixed gonadal dysgenesis and Y isochromosomes I(Y) is described. Lymphocyte cultures from peripheral blood contained a high proportion of 45,X cells and several other cell lines with two different marker chromosomes (mars). These markers had either a monocentric (mar1) or a dicentric appearance (mar2). Following high-resolution GTG, RBG, QFQ, and CBG bandings, five cell lines were identified; 45,X/46,X, + mar1/46,X, + mar2/47,X, + mar1x2/47,X + mar2x2. The percentages were 66/6/26/1/1%, respectively. Chromosome banding analyses were insufficient for characterization of the markers. In situ hybridization of specific probes for the Y centromere and its short arm showed, both in fluorescence and electron microscopy (ENT), two different Y rearrangements. Mar1 is an isochromosome for the short arm i(Yp) and mar2 is a dicentric which was shown by EM to be a double isochromosome Yp, inv dup i(Yp). The breakpoint producing mar1 is within the centromere and the one producing mar2 is within one of the short arms of the Y isochromosome. The findings of different cell populations in peripheral blood lymphocytes indicate the postzygotic instability of this i(Yp). 24 refs., 3 figs., 1 tab.

• OSTI ID: 508396
• Journal Information: American Journal of Medical Genetics, Vol. 63, Issue 3; Other Information: PBD: 14 Jun 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN Y CHROMOSOME
CHROMOSOMAL ABERRATIONS
MOSAICISM
NON-DISJUNCTION
DICENTRIC CHROMOSOMES
GENETIC MAPPING
DETECTION
PATIENTS
UROGENITAL SYSTEM DISEASES
BANDING TECHNIQUES
RESOLUTION
PROBES
FLUORESCENCE
IN-SITU HYBRIDIZATION
ELECTRON MICROSCOPY
BIOLOGICAL MARKERS
CENTROMERES