Balanced t(6;8)(6p8p;6q8q) and the CHARGE association.
نویسندگان
چکیده
A girl is described with bilateral retinal colobomata, Fallot's tetralogy, unilateral choanal atresia, abnormalities of the external ears, bilateral sensorineural deafness, a unilateral facial nerve palsy, and a tracheo-oesophageal fistula. A clinical diagnosis of the CHARGE association was made. She had an apparently balanced whole arm translocation involving chromosomes 6 and 8. Parental karyotypes were normal.
منابع مشابه
Clinical variability of patients with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion: two further cases.
We report two new cases with the t(6;8)(q27;p12) and FGFR1OP-FGFR1 fusion. Case 1 presented with polycythaemia vera (PV) and evolved over 4 years to a myeloproliferative disorder (MPD) resembling the 8p11 myeloproliferative syndrome (EMS). Case 2 presented with B-cell lymphoblastic leukaemia (B-ALL). These cases illustrate the clinical heterogeneity observed in patients with FGFR1 rearrangement...
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متن کاملCHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).
A 3-year-old boy was diagnosed with CHARGE association on the basis of bilateral choanal atresia, absence of the semicircular canals, hypoplastic cochleae, genital hypoplasia, growth and developmental delays, cranial nerve dysfunction, and facial anomalies. Ophthalmologic and cardiac evaluations were normal. He was found to have an apparently balanced t(2;7)(p14;q21.11) chromosomal translocatio...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 28 1 شماره
صفحات -
تاریخ انتشار 1991