Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.
Cytogenet Genome Res
; 144(4): 290-3, 2014.
Article
de En
| MEDLINE
| ID: mdl-25720458
ABSTRACT
Very few cases of constitutional interstitial deletions of the proximal short arm of chromosome 3 have been reported; however, the proximal 3p deletion is emerging as a clinically recognizable syndrome. We present an intrachromosomal insertion of 3p12.3p14.1 in a phenotypic normal man (46,XY,ins(3)(p25p12.3p14.1)) which is responsible for the unbalanced karyotype in 2 affected offspring, one with a 3p12.3p14.1 interstitial deletion and the other with a reciprocal duplication. The exceptionality of these 2 reciprocal recombinants contributes to a better definition of the proximal 3p deletion syndrome and its duplication counterpart.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Malformations multiples
/
Chromosomes humains de la paire 3
Limites:
Child
/
Child, preschool
/
Female
/
Humans
Langue:
En
Journal:
Cytogenet Genome Res
Sujet du journal:
GENETICA
Année:
2014
Type de document:
Article
Pays d'affiliation:
Espagne