Partial trisomy 4q and monosomy 9p resulting from a familial translocationt(4;9)(q27;p24) in a child with choanal atresia

Citation
Ch. Wouters et al., Partial trisomy 4q and monosomy 9p resulting from a familial translocationt(4;9)(q27;p24) in a child with choanal atresia, ANN GENET, 42(3), 1999, pp. 160-165
Citations number
19
Categorie Soggetti
Molecular Biology & Genetics
Journal title
ANNALES DE GENETIQUE
ISSN journal
00033995 → ACNP
Volume
42
Issue
3
Year of publication
1999
Pages
160 - 165
Database
ISI
SICI code
0003-3995(1999)42:3<160:PT4AM9>2.0.ZU;2-7
Abstract
A male infant with a deletion of 9p and concomitant duplication of 4q: 46,X Y, der(9)t(4;9)(q27;p24), is described. Parental chromosome analysis showed a balanced maternal translocation. To our knowledge, the above cytogenetic and clinical abnormalities have not been described previously. A phenotype comparison is presented with previously reported cases concerning a deleti on of 9p and a duplication of 4q.