A subtelomeric translocation apparently implied in multiple abortions.
OBJECTIVE
Chromosomal alterations are a major cause of clinically recognized abortions. So cryptic chromosomal rearrangements could be responsible for recurrent miscarriages.


METHODS
The study was performed on 18 clinically normal couples who had four or more spontaneous abortions and whose karyotypes were found to be normal. Fluorescence in situ hybridization with specific probes of subtelomeric regions was used after optimizing the amount of probe.


RESULTS
Only one subtelomeric translocation was detected between 2p and 3p chromosomes, in a female with seven miscarriages.


CONCLUSIONS
Subtelomeric rearrangements are infrequently related to multiple miscarriages. This kind of studies can be considered specially worthy when a couple have had not only abortions but also offspring with mental and physical anomalies. Thus, possible initial studies should focus on affected children or fetus.
Monfort
Sandra
S
Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avd. Campanar 21, Valencia, 46009, Spain.
Martínez
Francisco
F
Roselló
Mónica
M
Badia
Lourdes
L
Prieto
Félix
F
Orellana
Carmen
C
D000026:Abortion, Habitual / Q000209:etiology* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D014178:Translocation, Genetic