The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history.
We report on the molecular cytogenetics studies in a healthy couple who had had three pregnancies which ended in a termination of pregnancy (TOP). In two of them, prenatal sonogram showed fetal dwarfism and in the third one, a chromosome alteration was found in the amniocentesis. A previous pregnancy ended in a healthy girl. A high-resolution G-band karyotype (550-850 bands), together with Fluorescence in situ Hybridization (FISH) techniques, detected in the father a 4p interstitial euchromatic duplication. This chromosome duplication appears to be a previously undescribed euchromatic variant (EV). We discuss the possibility that the 4p paternal EV could be involved in the clinical and genetic findings of the three TOPs.
Rodríguez
L
L
Estudio Colaborativo Español de Malformaciones Congénitas del Centro de Investigación sobre Anomalías Congénitas, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain. laura@isciii.es
Zollino
M
M
Mansilla
E
E
Martínez-Fernández
M L
ML
Pérez
P
P
Murdolo
M
M
Martínez-Frías
M L
ML
D000025:Abortion, Eugenic; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4; D005260:Female; D020440:Gene Duplication; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy