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Characterization of a deleted Y chromosome in a male with Turner stigmata
Author(s) -
Calzolari E.,
Patracchini P.,
Palazzi P.,
Aiello V.,
Ferlini A.,
Trasforini G.,
Uberti E. Degll,
Bernardi F.
Publication year - 1993
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.1399-0004.1993.tb04419.x
Subject(s) - testis determining factor , karyotype , biology , turner syndrome , x chromosome , short stature , y chromosome , fluorescence in situ hybridization , genetics , southern blot , microbiology and biotechnology , cytogenetics , chromosome , gene , endocrinology
A 46,X, + mar karyotype was detected in an 11‐year‐old male with a clinical picture characterized by obesity, short stature, bilateral cryptorchidism and coarctation of the aorta. The presence of ZFY and SRY genes was demonstrated by PCR amplification, and the origin of the marker chromosome from a deleted Y chromosome was analyzed by in situ hybridization. The proximal limits of a deletion in Yq were defined by the absence of Southern blot hybridization signals upon probing with Yql 1 markers. Cytogenetics and molecular methods taken together indicate a deletion in q11.21. In addition, the loss of Yp subtelomeric sequences was suggested by the analysis of Southern blots hybridized with a 29A24 (DXYS14) probe and by the presence of coarctation of the aorta tentatively localized in Yp. The karyotype of the patient was suggested to be: 46,X,del(Y)(p11.3‐qll.21).