Digynic triploid infant surviving for 46 days

Abstract

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.

Length of life and treatment intensity in infants diagnosed prenatally or postnatally with congenital anomalies considered to be lethal

“…First, we elicited the expert opinion of knowledgeable clinicians (three perinatologists, three neonatologists, one geneticist and two genetics counselors) who reviewed International Classification of Diseases, Ninth Revision codes (ICD-9 codes 740 to 759) 5 and identified the congenital diagnoses they considered lethal. We then performed MEDLINE and Google searches of the diagnoses listed by two-thirds or more of the clinicians, reviewed articles, [6][7][8][9][10][11][12][13][14][15][16] reference texts 17 and websites, 18,19 and retained those diagnoses that were consistently reported to be associated with death before a year of life in nearly all (X85%, when statistics were available) cases. We excluded conjoined twins because of the confounding effect of one infant's condition on the other.…”

Polyploid Incidence and Evolution

“…Approximately 5% of natural abortuses are polyploid (28). Although most triploids and tetraploids have severe defects and fail to survive to term, livebirths do occasionally occur with infants surviving for up to two years (55,107). Imprinting has been implicated as a possible mechanism causing developmental abnormalities in triploids (32,80), based on the observation that survival is higher for digynic triploids (formed from polyploidization in the egg) than for dispermic triploids (formed from polyploidization in the sperm or, more commonly, fertilization by two sperm).…”

Mlh1 Deficiency in Zebrafish Results in Male Sterility and Aneuploid as Well as Triploid Progeny in Females

“…Polyploid individuals of many lower animal species and plants are viable (Meneely 1994;Marian 1997;Henry et al 2005), but in mammals they generally are not. However, in humans, where triploidy is often due to double sperm fertilizations, triploid embryos reach further developmental stages than most aneuploid ones, and rare cases of shortly surviving triploid humans have been reported (Hasegawa et al 1999).…”