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.
متن کامل+ 10 or trisomy 10 ( solely )
Clinics and pathology Disease ALL or ANLL. Phenotype / cell stem origin ALL cases are mostly pre B ALL; AML cases are M0, M1 or M2 AML, with, in most cases, a CD7+, CD33+ phenotype. Epidemiology Only 6 (poorly described) ALL cases and 9 ANLL cases, herein reviewed; incidence of +10: less than 1% of ANLL; sex ratio in ANLL cases is, so far, 1M/2F, and median age is 60 yrs (37-80 yrs), while ALL ...
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.
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...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/37601