Isochromosome 22 in trisomy 22 mosaic with five cell lines
نویسندگان
چکیده
منابع مشابه
Trisomy 22 mosaicism.
A child with many symptoms of trisomy 22 syndrome is described. The child showed a 46,XY/47,XY,+22 chromosome constitution. This is the first reported case of a trisome 22 phenotype with such a mosaic karyotype.
متن کاملTrisomy 22 and intersex.
Complete trisomy 22, with or without mosaicism, has been reported as a distinct syndrome. In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47,XX+22.
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We present an infant with true trisomy 22. Mosaicism is ruled out by the finding of a 47,XX, +22 karyotype in all cells analysed originating from two embryonic germ layers. The physical findings are consistent with the previously noted features including developmental delay, ear abnormalities, micrognathia, clefting, and congenital heart disease. The patient is the first described with macrocep...
متن کاملTrisomy 22 with 'cat eye' anomaly.
The case of a 10-month-old girl with an extra G-like chromosome is presented. Quinacrine, trypsin-Giemsa, and reverse banding identified the extra chromosome as no. 22. The phenotype of the patient is unique in that unilateral iris coloboma was observed, unlike the 18 cases of full trisomy 22 already published. This represents the first reported case of full trisomy 22 with this coloboma, or 'c...
متن کاملUnilateral radial aplasia and trisomy 22 mosaicism.
A child with unilateral radial aplasia, asymmetry, other malformations, and severe physical and mental retardation is reported. In blood and bone marrow cultures a low mosaicism for trisomy 22 was found. In a few cells a chromosome 22 was missing. The importance of early cytogenetic analysis on large numbers of cells is emphasised, especially in cases of asymmetry where mosaicism is suspected.
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2003
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.20365