[Wolf's syndrome due to pericentric inversion of maternal chromosome 4].
A female patient with characteristic phenotype of Wolf's syndrome is reported. Chromosomic studies showed that her mother was carrier of pericentric inversion in number 4 chromosome. Genetic mechanism which explain clinical manifestations is discussed.
de la Flor Bru
J
J
Clínica Infantil Nen Jesús, Sabadell, Barcelona.
Guitart
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D007446:Chromosome Inversion; D002894:Chromosomes, Human, Pair 4; D003937:Diagnosis, Differential; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D013577:Syndrome; D014314:Trisomy
Síndrome de Wolf secundario a inversión pericéntrica del cromosoma 4 materno.