Cytogenetic and molecular genetic characterization of trisomy 20 mosaicism in fetal blood and tissues

Prenatal Diagnosis
M A MicaleS Schwartz

Abstract

We report a case of mosaic trisomy 20, the most common autosomal mosaicism identified in amniocytes, ascertained in a woman referred for amniocentesis because of abnormal ultrasound at 18.1 weeks' gestation which revealed short femurs and nuchal thickening. Metaphase analysis of 98 clones revealed 47,XY, +20 in 96 cells (98 per cent). Trisomy 20 was demonstrated in 6 cells (12 per cent) in a total of 50 cells from two fetal blood cultures obtained after pregnancy termination. Fluorescence in situ hybridization (FISH) analysis of interphase nuclei utilizing a chromosome 20 alpha-satellite centromeric DNA probe revealed three signals in 57/546 nuclei (10 per cent) in fetal blood. Metaphase analysis of 167 cells from seven different fetal tissue sources revealed trisomy 20 in 32 cells (19.2 per cent). The percentage of trisomy 20 cells varied with tissue type, with the highest percentage (13/25 cells, 52 per cent) identified in the small intestine and lymph nodes and the lowest percentage (1/34 cells, 2.9 per cent) identified in a specimen of chorionic villi. Molecular genetic analyses utilizing polymerase chain reaction (PCR)-formated dinucleotide repeat polymorphisms demonstrated that the non-disjunctional event most likely occu...Continue Reading

References

Jul 1, 1992·Clinical Genetics·A R BrothmanR T Mosby
Mar 1, 1985·Clinical Genetics·L O VejerslevM Mikkelsen
Jul 1, 1989·Prenatal Diagnosis·J P ParkD H Wurster-Hill
Oct 1, 1987·Prenatal Diagnosis·L Y HsuT E Perlis
May 22, 1995·American Journal of Medical Genetics·M A MicaleS Schwartz
Mar 1, 1993·Human Genetics·M LarramendyS Knuutila

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Citations

Apr 11, 2000·American Journal of Medical Genetics·E D Austin-WardJ H Knoll
Dec 24, 2002·The Australian & New Zealand Journal of Obstetrics & Gynaecology·Paul A JamesJulie McGaughran
Oct 31, 2002·European Journal of Human Genetics : EJHG·Voula VelissariouMichael B Petersen
Feb 4, 2005·American Journal of Medical Genetics. Part a·Regina E EnsenauerJay W Ellison
Mar 26, 2005·Prenatal Diagnosis·W P RobinsonD K Kalousek
Jan 19, 2008·American Journal of Medical Genetics. Part a·Mary J H WillisMarilyn C Jones

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