title: Mixed gonadal dysgenesis in a patient with de novo tas(Y;19)(p11.3;q13.4) and 45,X mosaicism.
abstract: We report a patient with a de novo telomeric association between chromosomes 19 and Y in conjunction with mixed gonadal dysgenesis. The patient was first admitted to the clinic because of abnormal external genitalia. Laparoscopic evaluation revealed (1) a rudimentary uterus, one fallopian tube, and a small gonad resembling an ovary on the right side, and (2) an immature fallopian tube, a vas deferens, and a gonad resembling a testis on the left side. Conventional cytogenetic analysis performed on cultivated peripheral blood cells, and tissue obtained from the phallus and a gonadal structure which resembled a testis revealed two different cell lines with the 46,X,tas (Y;19)(p11.3;q13.4) and 45,X karyotype. Y chromosome microdeletion analysis showed that the patient did not have any genomic deletions in the AZFa, b, c, or SRY regions on the long arm of the Y chromosome. This is the first report of a patient with mixed gonadal dysgenesis that is accompanied by a telomeric association between chromosomes 19 and Y with 45,X mosaicism.
authors: Department of Medical Biology and Genetics, Faculty of Medicine, Akdeniz University, Antalya, Turkey.
authors: Zafer
authors: Z
authors: Cetin
authors: Mesut
authors: M
authors: Parlak
authors: Ozden
authors: O
authors: Altiok Clark
authors: Gungor
authors: G
authors: Karaguzel
authors: Guven
authors: G
authors: Luleci
authors: Iffet
authors: I
authors: Bircan
authors: Sibel
authors: S
authors: Berker-Karauzum
mesh_terms: D002888:Chromosomes, Human, Pair 19; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005820:Genetic Testing; D006060:Gonadal Dysgenesis, Mixed / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D016615:Telomere; D014178:Translocation, Genetic
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