title: 69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy.
abstract: A liveborn female with a 69,XXX karyotype and clinical features of triploidy syndrome is reported. Main phenotypical features are: intrauterine growth retardation, hypotonicity, micrognathism, low-set ears, ocular anomalies, syndactyly and atrophy of the cerebral cortex and corpus callosum. Study of chromosomal heteromorphisms revealed that triploidy might have arisen through fertilization of a diploid ovum by a haploid sperm (diginy).
authors.affiliation: Departamento de Pediatría, Facultad de Medicina, Alicante, Spain.
authors.forename: F
authors.initials: F
authors.lastname: Galán
authors.forename: F
authors.initials: F
authors.lastname: Orts
authors.forename: M S
authors.initials: MS
authors.lastname: Aguilar
authors.forename: F
authors.initials: F
authors.lastname: Clemente
authors.forename: C
authors.initials: C
authors.lastname: Loeda
authors.forename: I
authors.initials: I
authors.lastname: Aranda
authors.forename: B
authors.initials: B
authors.lastname: Jimenez Cobo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001921:Brain / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005306:Fertilization; D005317:Fetal Growth Retardation / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics; D007231:Infant, Newborn; D010641:Phenotype; D011123:Polyploidy