نتایج جستجو برای: partial trisomy 22

تعداد نتایج: 439803  

Journal: :Journal of Medical Genetics 1988

Journal: :Journal of Medical Genetics 2002

Journal: :international journal of fertility and sterility 0

0

Journal: :Blood 1993
S M Escudier J M Pereira-Leahy J W Drach H U Weier A M Goodacre M A Cork J M Trujillo M J Keating M Andreeff

Cytogenetic studies (CG) of 475 chronic lymphocytic leukemia (CLL) cases showed trisomy 12 in 6.1% or 26% of patients with abnormal karyotypes. Fluorescence in situ hybridization (FISH) detected trisomy 12 in 35% of 117 CLL patients. Only 34.6% of cases detected by FISH were detected by CG. Twelve patients had low levels of trisomic cells (4% to 11%) relative to clonal B cells (47.5% to 86%), s...

Journal: :Journal of medical genetics 1987
C J Franchino D Beneck M A Greco S R Wolman

A male infant with partial trisomy 6q is described. This patient shares features with 12 previously reported cases including hypertelorism, cleft soft palate, bow shaped mouth, micrognathia, short, laterally webbed neck, clubbing of hands and feet, syndactyly, and growth retardation. In addition, visceral anomalies less frequently reported are described. These observations may extend the phenot...

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