A 8.26 Mb deletion in 6q16 and a 4.95 Mb deletion in 20p12 including JAG1 and BMP2 in a patient with Alagille syndrome and Wolff–Parkinson–White syndrome
L Le Gloan, O Pichon, B Isidor, M Boceno… - European journal of …, 2008 - Elsevier
We report a child presenting with Alagille and Wolff–Parkinson–White (WPW) syndromes.
Standard karyotyping showed a de novo 46, XY, t (1; 6)(p31; q16) translocation. Fluorescent
in situ hybridization analysis identified a de novo deletion in the 20p12 chromosomal region
encompassing JAG1, the major gene responsible for Alagille syndrome. The aberration was
further characterized using an Agilent 44K oligonucleotide array, which confirmed the 4.95
Mb 20p12 deletion. An additional 8.26 Mb deletion was identified at the 6q16 translocation …
Standard karyotyping showed a de novo 46, XY, t (1; 6)(p31; q16) translocation. Fluorescent
in situ hybridization analysis identified a de novo deletion in the 20p12 chromosomal region
encompassing JAG1, the major gene responsible for Alagille syndrome. The aberration was
further characterized using an Agilent 44K oligonucleotide array, which confirmed the 4.95
Mb 20p12 deletion. An additional 8.26 Mb deletion was identified at the 6q16 translocation …