TY - JOUR
T1 - Prenatal Diagnosis and Clinical Features of an Individual with Tetrasomy 18p and Trisomy 18q Mosaicism
AU - Habecker-Green, Julia G.
AU - Naeem, Rizwan
AU - Gold, Howard
AU - O'Grady, J. Patrick
AU - Kanaan, Camille
AU - Bayer-Zwirello, Lucy
AU - Murray, Michele S.
AU - Cohn, Gabriel M.
PY - 1998/9
Y1 - 1998/9
N2 - Prenatal diagnosis and clinical follow up of a patient with mosaicism for anomalies of chromosome 18 are reported. The fetus appeared on ultrasound to have multiple anomalies, including clubbed feet, abnormal hand positioning, edema of the scalp, cleft palate, and polyhydramnios. The karyotype on amniocytes was 47,XY,+i(18p). Postnatally, the peripheral blood karyotype was 46,XY,+i(18q), whereas the skin fibroblast karyotype was 47,XY,+i(18p). The infant had many features consistent with those previously described in cases of tetrasomy 18p and some that were consistent with trisomy 18q.
AB - Prenatal diagnosis and clinical follow up of a patient with mosaicism for anomalies of chromosome 18 are reported. The fetus appeared on ultrasound to have multiple anomalies, including clubbed feet, abnormal hand positioning, edema of the scalp, cleft palate, and polyhydramnios. The karyotype on amniocytes was 47,XY,+i(18p). Postnatally, the peripheral blood karyotype was 46,XY,+i(18q), whereas the skin fibroblast karyotype was 47,XY,+i(18p). The infant had many features consistent with those previously described in cases of tetrasomy 18p and some that were consistent with trisomy 18q.
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M3 - Article
C2 - 9766419
AN - SCOPUS:0032163991
SN - 0743-8346
VL - 18
SP - 395
EP - 398
JO - Journal of Perinatology
JF - Journal of Perinatology
IS - 5
ER -