An unusual association of hypospadias with partial deletion of chromosome 1q  

Oleh:

Paliwal, Preeti ; Sharma, Arundhati ; Sahoo, Jayaprakash

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 93 no. 07 (May 2010), page 2413.
Topik: Chromosome; cytogenetics; deletion; hypospadias; infertility; karyotype

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2010.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

Lihat Detail Induk

Isi artikel

Objective To report an unusual finding of chromosome 1q deletion in a man with failed multiple hypospadias repair. Design Case report and discussion. Setting An academic tertiary care hospital. Patient(s) A 32-year-old man with failed multiple hypospadias repair. Intervention(s) Clinical, hormonal, cytogenetic evaluation, fluorescent in situ hybridization (FISH), and ultrasonography. Main Outcome Measure(s) Serum gonadotropin and testosterone levels, and karyotype showing structural abnormality of long arm of chromosome 1. Result(s) Ultrasonography showed the absence of the left testis and a hypoechoic right testis. Serum luteinizing hormone and follicular stimulating hormone levels were raised, but testosterone and prolactin levels were within the normal range for adult men. Karyotype analysis revealed an interstitial deletion of the long arm of chromosome 1, which was confirmed by FISH. Conclusion(s) Chromosome 1 may harbor a critical domain that is essential for male fertility.

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