18p monosomy with midline defects and a de novo satellite identified by FISH.
We report a girl with an 18p deletion and showing a total GH deficiency, a single central maxillary incisor, and a pituitary dysplasia. This suggests that del(18)(p) could be involved in pituitary dysplasia. We review the association between midline developmental defects and chromosome 18 anomalies. This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy.
Taine
L
L
Laboratoire de Génétique, CHU Pellegrin, Bordeaux, France.
Goizet
C
C
Wen
Z Q
ZQ
Chateil
J F
JF
Battin
J
J
Saura
R
R
Lacombe
D
D
D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D004276:DNA, Satellite; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009006:Monosomy; D014178:Translocation, Genetic
D004276:DNA, Satellite