Unexpected inherited chromosomal translocation during prenatal diagnosis for maternal age: risk for a nondetectable karyotype imbalance in offspring.
An unexpected t(1;19) translocation is described in a fetus. Inherited from the mother, this translocation was found during the course of a normal prenatal diagnosis made for maternal age. The very short length of chromosomal translocated segments and their labelling pattern made high-resolution cytogenetic methods and fluorescence in situ hybridization techniques necessary for the correct identification of this karyotype rearrangement, both in mother and fetus. Different modes of meiotic segregation, leading to potential erroneous prenatal diagnoses, are discussed.
Siffroi
J P
JP
Laboratoire d'Histologie, Biologie de la Reproduction et Cytogénétique, Hôpital Tenon, Paris, France. jean-pierre.siffroi@tnn.ap-hop-paris.fr
Heim
N
N
Benzacken
B
B
Franco
J C
JC
Le Bourhis
C
C
D000328:Adult; D000649:Amniocentesis; D002878:Chromosomes, Human, Pair 1; D002888:Chromosomes, Human, Pair 19; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008423:Maternal Age; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic