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Identification of a non‐fluorescent isodicentric Y chromosome by molecular cytogenetic techniques
Author(s) -
Macera Michael J.,
Sherman Jack,
Shah Harshad O.,
Blumberg Denise L.,
Buttice Linda S.,
Lin Jen H.,
Verma Ram S.
Publication year - 1994
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1994.tb04180.x
Subject(s) - gonadoblastoma , y chromosome , biology , fluorescence in situ hybridization , short stature , x chromosome , chromosome , genetics , marker chromosome , cytogenetics , microbiology and biotechnology , turner syndrome , karyotype , gene , endocrinology
A 12 1/2‐month‐old girl was referred because of short stature, short neck, large internipple distance and simian crease on her right hand. By routine cytogenetic techniques the presence of an unidentifiable marker chromosome and loss of one X chromosome was noted (i.e. 45, X/46, X, mar/47, X, mar, +mar). By fluorescence in situ hybridization (FISH) technique, the marker chromosome was identified as an isodicentric non‐fluorescent Y chromosome ((45, X/46, X, idic (Y nf )/47, X, idic (Y nf ), +idic (Y nf )). Although the clinical significance of this finding cannot be assessed at present, possible development of gonadoblastoma in such cases is a major concern and warrants follow‐up evaluations.