Abstract |
Ring Y chromosome is a very rare chromosomal aberration. The published mixed gonadal dysgenesis (MGD) patients with a ring Y chromosome are short in stature, but are not growth hormone (GH) deficient. We present the molecular cytogenetic and molecular characterization of ring Y chromosome mosaicism in a 10-year-old boy with MGD whose short stature could be explained by the high percentage of cells monosomic for the X-chromosome, but also by the presence of severe GH deficiency. The ring Y chromosome in our patient is a de novo structural aberration. The father's karyotype was normal.
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Authors | T Milenkovic, M Guc-Scekic, D Zdravkovic, V Topic, T Liehr, G Joksic, D Radivojevic, N Lakic |
Journal | Balkan journal of medical genetics : BJMG
(Balkan J Med Genet)
Vol. 14
Issue 2
Pg. 71-6
(Dec 2011)
ISSN: 1311-0160 [Print] Poland |
PMID | 24052714
(Publication Type: Journal Article)
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