Partial chromosome deletion: a new trisomy rescue mechanism?
OBJECTIVE
We described a first case of a fetus with multiple congenital malformations associated with full trisomy 5 on direct CVS analysis and a partial trisomy 5 after cell culture.


METHODS
CVS karyotype (direct examination and culture) was performed after ultrasound examination and genetic counseling.


RESULTS
Direct CVS preparation showed a female karyotype with a homogeneous entire chromosome 5 trisomy, and karyotype of cultured CVS showed partial chromosome 5 trisomy, with an extra chromosome resulting from a deleted chromosome 5: 47,XX,del(5q31),+5. Only macroscopic examination could be performed because parents decided against postmortem examination and further analysis.


CONCLUSIONS
After a brief literature review, we argue that all de novo large chromosome deletions need to be considered as potentially associated with a trisomy rescue and uniparental disomy.
Vialard
F
F
Department of Cytogenetics, CHI Poissy-St-Germain, Poissy, France. fvialard@hotmail.com
Molina-Gomes
D
D
Quarello
E
E
Leroy
B
B
Ville
Y
Y
Selva
J
J
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D037881:Aborted Fetus / Q000473:pathology; D000328:Adult; D015193:Chorionic Villi Sampling; D002872:Chromosome Deletion; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D011247:Pregnancy; D014314:Trisomy / Q000235:genetics*; D024182:Uniparental Disomy