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Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and Molecular analyses
Author(s) -
Slim Rima,
Soulié Joelle,
Hotmar Jan,
Lecolier Bertrand,
Bercau Guy,
Bernheim Alain
Publication year - 1994
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.1970140105
Subject(s) - isochromosome , karyotype , fluorescence in situ hybridization , biology , marker chromosome , microbiology and biotechnology , prenatal diagnosis , breakpoint , derivative chromosome , genetics , polymerase chain reaction , centromere , chromosome , cytogenetics , dicentric chromosome , fetus , gene , pregnancy
A case of 45,X/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y‐chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11·1 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.