A Partial Trisomy 15q Due to 15;17 Translocation Detected by Conventional Cytogenetic and Fish Techniques
Küçük Resim Yok
Tarih
2000
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
We report a case having multiple abnormalities including the simultaneous presence of the heart defect and central nerve system abnormalities, which has been reported in a few cases, and with a partial trisomy 15q. Partial trisomy 15q has been inherited from a balanced translocation carried by his phenotypically normal father, detected by traditional banding and fluorescence in situ hybridization (FISH). Application of FISH using whole chromosome specific library probes, locus specific and repetitive probes allowed us to detect the translocation between chromosomes 15q and 17q. Simultaneous application of probes revealed the position of the translocation. interestingly, in addition to the chromosomes 15 pericentromeric signals, the use of chromosome 15 beta-satellite III probe demonstrated an extra signal on chromosome 14 in both metaphase, and lighted three signals interphase nuclei which was inherited from his father. This patient is compared with other partial trisomy 15q patients reported in the literature. The results are also discussed in relation to genetic counselling for the possible relation of chromosome abnormality and clinical findings.
Açıklama
Anahtar Kelimeler
partial trisomy 15q, cytogenetics, Fısh
Kaynak
Genetic Counseling
WoS Q Değeri
Q3
Scopus Q Değeri
N/A
Cilt
11
Sayı
1
Künye
Oran, B., Acar, H., Cora, T., (2000). A Partial Trisomy 15q Due to 15;17 Translocation Detected by Conventional Cytogenetic and Fish Techniques. Genetic Counseling, 11(1), 25-32.
