A patient with interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and a CHARGE-like phenotype.
We report on a 4-month-old boy with a de novo interstitial deletion of the short arm of chromosome 3 (pter-->p21.2::p12-->qter) and clinical findings typical of proximal 3p deletion together with coloboma of iris, heart defect, choanal atresia, retardation of growth and development, genital hypoplasia, and ear anomalies. Family history was unremarkable and parental chromosomes were normal. The clinical manifestations of the patient are compared with those of 10 patients previously described with a proximal 3p deletion. The additional CHARGE-like phenotype is discussed.
Wieczorek
D
D
Institut für Humangenetik, Universitätklinikum Essen, Germany.
Bolt
J
J
Schwechheimer
K
K
Gillessen-Kaesbach
G
G
D000015:Abnormalities, Multiple / Q000235:genetics*; D002754:Choanal Atresia; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3; D003103:Coloboma; D017809:Fatal Outcome; D006130:Growth Disorders; D006330:Heart Defects, Congenital; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype