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 pregnanc...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2007-05, Vol.143A (9), p.995-998
Main Authors: Rodríguez, L., Zollino, M., Mansilla, E., Martínez‐Fernández, M.L., Pérez, P., Murdolo, M., Martínez‐Frías, M.L.
Format: Article
Language:English
Subjects:
4p duplication
Abortion, Eugenic
Biological and medical sciences
Chromosome Banding
Chromosomes, Human, Pair 4
Classical genetics, quantitative genetics, hybrids
euchromatic variant
Female
FGFR3
Fundamental and applied biological sciences. Psychology
Gene Duplication
Genetics of eukaryotes. Biological and molecular evolution
Heterozygote
Human
Humans
Male
Medical genetics
Medical sciences
Pedigree
Polymorphism, Genetic
Pregnancy
TOP
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Summary: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. © 2007 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.31681