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Prenatal overgrowth and mosaic trisomy 15q25‐qter including the IGF1 receptor gene
Author(s) -
Faivre Laurence,
Rousseau Thierry,
Laurent Nicole,
Gosset Philippe,
Sanlaville Damien,
ThauvinRobinet Christel,
Cusin Véronica,
Lionnais Stéphanie,
Callier Patrick,
Khau Van Kien Philippe,
Huet Frédéric,
Turleau Catherine,
Sagot Paul,
Mugneret Francine
Publication year - 2004
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.891
Subject(s) - trisomy , biology , insulin like growth factor 1 receptor , karyotype , aneuploidy , phenotype , genetics , fetus , chromosome , placenta , pathology , gene , pregnancy , receptor , medicine , growth factor
Abstract Overgrowth is rarely associated with chromosomal imbalances. Here, we report on a male foetus presenting with overgrowth and additional material on the short arm of one of the chromosome 15 in 12% of lymphocytes and 50% of amniotic cells. Parents' karyotypes were normal, indicating a de novo origin for this unbalanced rearrangement. Complementary studies using cytogenetic and FISH studies showed that this additional material resulted in a 15q25‐qter trisomy and confirmed the presence of three copies of the insulin‐like growth factor 1 receptor ( IGF1R ) gene, included in the trisomic region. Autopsy performed after termination of pregnancy revealed isolated overgrowth and absence of visceral malformations. The possible mechanisms and origins for the formation of this mosaic pure trisomy are complex. The present observation emphasises the hypothesis that the overgrowth phenotype, frequently reported in patients with trisomy including the 15q26 region, might be causally related to a dosage effect of the IGF1R gene, as well as the importance of chromosome analysis in patients with overgrowth. It also confirms that the overgrowth is of prenatal onset in those observations. Copyright © 2004 John Wiley & Sons, Ltd.