Interstitial deletions without phenotypic effect: prenatal diagnosis of a new family and brief review.
A 39-year-old woman (G4P1SAB2) was referred for amniocentesis for advanced maternal age. An interstitial deletion of the G-dark band 11p12 was found in the fetus. Blood from the mother and her previous son was cultured and the same deletion was found in both. The absence of phenotypic effect in this family further confirms that G-dark euchromatic deletions are compatible with a normal phenotype, and underlines the importance of checking familial karyotypes even when apparently unbalanced structural rearrangements are found at prenatal diagnosis.
Barber
J C
JC
Kennedy-Galton Centre for Clinical Genetics, Northwick Park Hospital, Harrow, Middlesex, UK.
Mahl
H
H
Portch
J
J
Crawfurd
M D
MD
D000328:Adult; D000649:Amniocentesis; D002869:Chromosome Aberrations / Q000175:diagnosis*; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002880:Chromosomes, Human, Pair 11; D005260:Female; D005838:Genotype; D006801:Humans; D007621:Karyotyping; D010641:Phenotype; D011247:Pregnancy