TY - JOUR
T1 - Digynic triploid infant surviving for 46 days
AU - Hasegawa, Tomonobu
AU - Harada, Naoki
AU - Ikeda, Kazushige
AU - Ishii, Tomohiro
AU - Hokuto, Isamu
AU - Kasai, Kenji
AU - Tanaka, Mamoru
AU - Fukuzawa, Ryuji
AU - Niikawa, Norio
AU - Matsuo, Nobutake
PY - 1999
Y1 - 1999
N2 - We report on a triploid infant who survived for 46 days. She had severe intrauterine growth retardation, relative macrocephaly, and a small, noncystic placenta, which are manifestations compatible with type II phenotype. Cultured amniotic fluid cells, skin fibroblasts, cord blood, and peripheral blood lymphocytes all showed a nonmosaic 69,XXX karyotype. Analysis of chromosomal heteromorphisms and microsatellite DNA polymorphisms in the infant and her parents indicated that the extra haploid set in the infant resulted from nondisjunction at maternal second meiosis. Postzygotic, mitotic nondisjunction was ruled out because of the presence of both homozygous and heterozygous markers of maternal origin. A search of the literature demonstrated five triploid infants, including the girl we described, who survived 4 weeks or more, and the parental origin of whose triploidy was studied: four were digynic and one was diandric. These findings support the notion that type II triploids are digynic in parental origin and that they survive longer than type I, diandric triploids.
AB - We report on a triploid infant who survived for 46 days. She had severe intrauterine growth retardation, relative macrocephaly, and a small, noncystic placenta, which are manifestations compatible with type II phenotype. Cultured amniotic fluid cells, skin fibroblasts, cord blood, and peripheral blood lymphocytes all showed a nonmosaic 69,XXX karyotype. Analysis of chromosomal heteromorphisms and microsatellite DNA polymorphisms in the infant and her parents indicated that the extra haploid set in the infant resulted from nondisjunction at maternal second meiosis. Postzygotic, mitotic nondisjunction was ruled out because of the presence of both homozygous and heterozygous markers of maternal origin. A search of the literature demonstrated five triploid infants, including the girl we described, who survived 4 weeks or more, and the parental origin of whose triploidy was studied: four were digynic and one was diandric. These findings support the notion that type II triploids are digynic in parental origin and that they survive longer than type I, diandric triploids.
KW - Chromosomal heteromorphism
KW - Digynic triploid
KW - Long survival
KW - Microsatellite DNA polymorphism
KW - Type II phenotype
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U2 - 10.1002/(SICI)1096-8628(19991203)87:4<306::AID-AJMG5>3.0.CO;2-6
DO - 10.1002/(SICI)1096-8628(19991203)87:4<306::AID-AJMG5>3.0.CO;2-6
M3 - Article
C2 - 10588835
AN - SCOPUS:0032732144
SN - 0148-7299
VL - 87
SP - 306
EP - 310
JO - American journal of medical genetics
JF - American journal of medical genetics
IS - 4
ER -