An adult patient with a distal interstitial 14q deletion: clinical report and literature review.
We report a patient with an interstitial 14q32.1-->q32.3 deletion and review the literature. The adult patient presented with moderate mental retardation, a friendly behavior and a non-specific phenotype. The deletion seemed to be terminal but with FISH probes appeared to be interstitial. Comparison with other 14q terminal and interstitial deletion patients reported in literature and those with a ring 14 chromosome is given.
Spruijt
L
L
Department of Clinical Genetics, academic hospital Maastricht, The Netherlands.
Van Der Blij-Philipsen
M
M
Engelen
J J
JJ
Schrander-Stumpel
C T
CT
D000328:Adult; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D020732:Cytogenetic Analysis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010641:Phenotype