First cryptic balanced reciprocal translocation mosaicism and familial transmission
Am J Med Genet A
.
2008 Nov 15;146A(22):2971-4.
doi: 10.1002/ajmg.a.32547.
Authors
Celine Dupont
1
,
Andree Delahaye
,
Lydie Burglen
,
Anne-Claude Tabet
,
Azzedine Aboura
,
Samia Kanafani
,
Françoise Baverel
,
Thierry Billette de Villemeur
,
Brigitte Benzacken
,
Eva Pipiras
Affiliation
1
Service d'Histologie-Embryologie et Cytogenetique, Biologie de la Reproduction, Hopital Jean Verdier, AP-HP, Bondy, France. celine.dupont@jvr.aphp.fr
PMID:
18925677
DOI:
10.1002/ajmg.a.32547
No abstract available
Publication types
Case Reports
MeSH terms
Adult
Chromosomes, Human, Pair 22 / genetics*
Chromosomes, Human, Pair 9 / genetics*
Fatal Outcome
Female
Humans
In Situ Hybridization, Fluorescence
Infant
Male
Mosaicism*
Pedigree
Translocation, Genetic*