[Balanced chromosome abnormalities with abnormal phenotype].
In this report we summarized our experience (1970-1986) on autosomal reciprocal translocations with particular interest towards the possible excess of mental retardation and congenital malformations in carriers of apparently balanced chromosomal rearrangements. The present data confirm the previous findings that the association of MR/MCA and apparently balanced autosomal chromosomal rearrangements is much higher than expected by chance.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven.
D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000235:genetics; D006580:Genetic Carrier Screening; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D010641:Phenotype; D014178:Translocation, Genetic
Anomalies chromosomiques équilibrées avec phénotype anormal.