[Balanced chromosome rearrangements with abnormal phenotype].
27 cases in which apparent balanced chromosomal rearrangements (reciprocal and translocations and pericentric inversions) are associated with phenotypic abnormalities are reported and compared with the previous published cases. Almost all patients display mental retardation and a non specific dysmorphism. Genetic counseling is different whether the abnormality is inherited or de novo. When an unexpected structural rearrangements is found in fetal cells, the attitude depends on the results of the parent's chromosomal study.
Philip
N
N
Centre de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille.
Mattei
M G
MG
Pellissier
M C
MC
Mattei
J F
JF
Giraud
F
F
D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D000013:Congenital Abnormalities / Q000235:genetics; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics; D010641:Phenotype; D011296:Prenatal Diagnosis
Remaniements chromosomiques équilibrés à phénotype anormal.