69,XXX karyotype in a malformed liveborn female. Maternal origin of triploidy.
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).
Galán
F
F
Departamento de Pediatría, Facultad de Medicina, Alicante, Spain.
Orts
F
F
Aguilar
M S
MS
Clemente
F
F
Loeda
C
C
Aranda
I
I
Jimenez Cobo
B
B
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