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.