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Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis
Author(s) -
Capalbo Anna,
Sinibaldi Lorenzo,
Bernardini Laura,
Spasari Iolanda,
Mancuso Brunella,
Maggi Eugenio,
Novelli Antonio
Publication year - 2013
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.4105
Subject(s) - supernumerary , karyotype , small supernumerary marker chromosome , cytogenetics , phenotype , genetics , marker chromosome , biology , prenatal diagnosis , chromosome , ring chromosome , fetus , anatomy , gene , pregnancy
What's already known about this topic? Chromosomal deletion associated with a complementary ring is a very rare cytogenetic finding. Genetic counselling in prenatally ascertained cases without ultrasound defects is extremely complex because this rearrangement has been associated both to normal and abnormal phenotype.What does this study add? This case elucidates the importance of the integrated approach by microarray‐based and standard cytogenetics analysis to accurately characterize chromosome rearrangements. It prompted to review all the reported cases of proximal 4q deletion to refine the karyotype/phenotype correlation.