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Unexpected structural chromosome rearrangements in prenatal diagnosis
Author(s) -
Boué J.,
Girard S.,
Thépot F.,
Choiset A.,
Boué A.
Publication year - 1982
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970020304
Subject(s) - prenatal diagnosis , chromosome , neural tube , genetics , medicine , fetus , neural tube defect , obstetrics , biology , pregnancy , embryo , gene
Among 5315 prenatal diagnoses performed for various indications (maternal age, neural tube defect, metabolic diseases, X‐linked diseases, pathologic pregnancies) 29 unexpected structural chromosome rearrangements were found in fetal cells. Fourteen were de novo chromosome rearrangements, six unbalanced, and eight balanced. Fifteen were inherited and balanced rearrangements. This high frequency of structural anomalies is discussed.