TY - JOUR
T1 - Karyotype-Phenotype Correlation in Partial Trisomy 13
T2 - Report of a Case due to Maternal Translocation
AU - Bonioli, Eugenio
AU - Vianello, Maria Grazia
PY - 1981
Y1 - 1981
N2 - A partial trisomy 13q, originating from a maternal translocation, 46,XX,t(3;13) (p26;q22), occurred in a 3-month-old infant, affected by multiple congenital anomalies. A review of the previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 is conclusive for the existence of a distinct clinical entity; however, it is difficult to assign particular malformations to specific chromosome bands.
AB - A partial trisomy 13q, originating from a maternal translocation, 46,XX,t(3;13) (p26;q22), occurred in a 3-month-old infant, affected by multiple congenital anomalies. A review of the previously reported cases of partial trisomy for the distal segment of the long arm of chromosome 13 is conclusive for the existence of a distinct clinical entity; however, it is difficult to assign particular malformations to specific chromosome bands.
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U2 - 10.1001/archpedi.1981.02130360023009
DO - 10.1001/archpedi.1981.02130360023009
M3 - Article
C2 - 7315808
AN - SCOPUS:0019780237
VL - 135
SP - 1115
EP - 1117
JO - Archives of Pediatrics and Adolescent Medicine
JF - Archives of Pediatrics and Adolescent Medicine
SN - 1072-4710
IS - 12
ER -