A patient with a de novo 11q24.2-->qter deletion.
In the group of patients with terminal 11q deletion reported up to now. Jacobson syndrome has been delineated as a distinct clinical entity. In the present report we describe the clinical findings in a 3-year old girl with de novo deletion 11q24.2-->11qter, and compare the findings with Jacobson syndrome.
Spruijt
L
L
Department of Clinical Genetics, Academic Hospital Maastricht, Maastricht, The Netherlands.
Fryns
J P
JP
Hanekom
J
J
Engelen
J J
JJ
Alofs
M
M
Albrechts
J C
JC
Schrander-Stumpel
C T
CT
D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics; D003582:Cytogenetics / Q000379:methods; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D014178:Translocation, Genetic / Q000235:genetics