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A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises
Author(s) -
Spruijt L.,
Engelen J.J.M.,
BruinenSmeijsters I.P.,
Albrechts J.C.M.,
Schrander J.,
SchranderStumpel C.T.R.M.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30185
Subject(s) - phenotype , intellectual disability , genetics , medicine , biology , gene
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. © 2004 Wiley‐Liss, Inc.