Detection of an Unbalanced T(4;15) by Fish in a Child With Multiple Congenital Anomalies
Küçük Resim Yok
Tarih
2001
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Medecine Et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Detection of an unbalanced t(4; 15) by FISH in a child with multiple congenital anomalies: In this report, we present the clinical history and findings in a 6-month-old male with multiple congenital anomalies, developmental delay, and an initial male karyotype with 4q+. The origin of the additional segment on 4q was unequivocally established by fluorescence in situ hybridization (FISH). Whole chromosome probe for chromosome 4 and chromosome 15-specific a-satellite probe were used. The karyotype was demonstrated to be 46,XY,der(4), t(4;15) (q35;?), inv(9)(p13q13). To the best of our knowledge the above cytogenetic abnormalities with these clinical findings have not been described previously. This case further demonstrates the advantage of FISH in the identification of anomalous chromosome regions and breakpoints.
Açıklama
Anahtar Kelimeler
chromosome 4, chromosome 15, unbalanced translocations, fluorescence in situ hybridization
Kaynak
Genetic Counseling
WoS Q Değeri
N/A
Scopus Q Değeri
Cilt
12
Sayı
4
Künye
Celep, F., Acar, H., Aynacı, O., Aynacı, F. M., Karagüzel, A., (2001). Detection of an Unbalanced T(4;15) by Fish in a Child With Multiple Congenital Anomalies. Genetic Counseling, 12(4), 319-326.
