Cytogenetic and clinical studies of a male infant with disorder of sexual development: case report
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Tarih
2008
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Elsevier Science Inc
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Objective: To report a translocation between chromosomes 3 and 4: 46, XY, t(3; 4)(p25; q31.3) in a male infant with a disorder of sexual development. Design: Case report. Setting: University hospital. Patient(s): A 1-year-old infant who presented with abnormal location of the urethral meatus. Intervention(s): Cytogenetic analysis, fluorescence in situ hybridization (FISH), and serum concentrations measurement (using peripheral blood), and clinical examination. Main Outcome Measure(s): Karyotype and clinical findings. Result(s): On clinical examination, bilateral testicular volume and phallus were determined to be undersized. Serum concentrations of T and DHEAS were low. G-banding of his chromosomes showed that the patient had a balanced translocation involving chromosomes 3 and 4: 46, XY, t(3; 4)(p25; q31.3). This karyotype finding was confirmed by FISH. The FISH analysis revealed the presence of sex-determining region (SRY). The proband inherited this translocation from his father. His sister had the same translocation. However, the father and sister of the proband were clinically normal. Conclusion(s): The presence of this chromosomal anomaly and hypospadias was unique to our patient compared with others with the 46, XY, t(3; 4) translocation. Although no such association has been reported to date, we think that the severe hypospadias in our case might be associated with this translocation. (Fertil Steril (R) 2008; 90: 2003. e13-e16. (C)2008 by American Society for Reproductive Medicine.)
Açıklama
Anahtar Kelimeler
Disorders Of Sexual Development, Hypospadias, Translocation, Chromosome, Sry
Kaynak
Fertility and Sterility
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
90
Sayı
5
