A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises.
We report on a patient with a de novo 15q24q26.1 interstitial deletion. She presented with developmental delay, behavioral characteristics, and mild dysmorphism with very blue irises. We review the limited literature of interstitial 15q deletions. There was no distinct phenotypic overlap between these two cases in literature and the present patient. Additional reports are necessary in order to establish a possible recognizable deletion 15q24q26.1 phenotype.
Department of Clinical Genetics, University hospital Maastricht, Maastricht, The Netherlands.
L
L
Spruijt
J J M
JJ
Engelen
I P
IP
Bruinen-Smeijsters
J C M
JC
Albrechts
J
J
Schrander
C T R M
CT
Schrander-Stumpel
D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D005127:Eye Color / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence