TY - JOUR
T1 - A patient with interstitial deletion of the short arm of chromosome 3 (pter→p21.2::p12→qter) and a CHARGE-like phenotype
AU - Wieczorek, Dagmar
AU - Bolt, Jan
AU - Schwechheimer, Karl
AU - Gillessen-Kaesbach, Gabriele
PY - 1997/4/14
Y1 - 1997/4/14
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0031005946&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1096-8628(19970414)69:4<413::AID-AJMG15>3.0.CO;2-Q
DO - 10.1002/(SICI)1096-8628(19970414)69:4<413::AID-AJMG15>3.0.CO;2-Q
M3 - Journal articles
C2 - 9098493
AN - SCOPUS:0031005946
SN - 0148-7299
VL - 69
SP - 413
EP - 417
JO - American Journal of Medical Genetics
JF - American Journal of Medical Genetics
IS - 4
ER -
