Interstitial deletion of the short arm of chromosome 1: attempt to establish a clinical phenotype (46,XX,del (1)(p22p32)).
A girl with a de novo interstitial deletion of the short arm of chromosome 1 (46,XX,del (1)(p22p32) is described with moderate developmental delay and minor phenotypic abnormality. These clinical manifestations are compared to previously reported patients with interstitial deletion of chromosome 1, in an attempt to identify a clinical phenotype which seems quite different from the syndrome linked to more terminal deletion of chromosome 1p, and perhaps from more proximal 1p deletion phenotype.
Mircher
Clotilde
C
Jerome Lejeune Medical Center, Paris, France. cmjl@cmjl.org
Rethore
Marie-Odile
MO
Lespinasse
James
J
Fert-Ferrer
Sandra
S
Lundsteen
Claes
C
Kirchoff
Maria
M
D002675:Child, Preschool; D002872:Chromosome Deletion; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D010641:Phenotype