Extra Yq and partial monosomy 12p due to a Y;12 translocation in a boy with features of the 12p deletion syndrome.
نویسندگان
چکیده
منابع مشابه
Extra Yq and partial monosomy 12p due to a Y;12 translocation in a boy with features of the 12p deletion syndrome.
A Y;12 translocation, resulting in extra Yq material and partial monosomy 12p, was found in a 7 1/2 year old boy. He showed growth and mental retardation and several of the congenital anomalies seen in the 12p deletion syndrome. LDHB activity, the gene for which is located at 12p12, was normal in serum, in accordance with the suspected 12p13 deletion in the patient.
متن کاملInherited 5p deletion syndrome due to paternal balanced translocation: Phenotypic heterogeneity due to duplication of 8q and 12p.
5p deletion syndrome or Cri du Chat syndrome is a autosomal deletion syndrome, caused by the de novo deletion of chromosome 5p in the majority of the cases. Clinical features include developmental delay, microcephaly, subtle facial dysmorphism and high-pitched cry. With the advent of newer techniques such as multiplex ligation-dependent probe amplification, rapid diagnosis is possible and chrom...
متن کاملa frame semantic approach to the study of translating cultural scripts in salingers franny and zooey
the frame semantic theory is a nascent approach in the area of translation studies which goes beyond the linguistic barriers and helps us to incorporate cognitive and cultural factors to the study of translation. based on rojos analytical model (2002b), which centered in the frames or knowledge structures activated in the text, the present research explores the various translation problems that...
15 صفحه اولTetrasomy 12p (Pallister-Killian syndrome).
First described in 1977 by Pallister et all and independently reported in 1981 by Killian and Teschler-Nicola,2 the syndrome is known for its many anomalies and by various names including Pallistermosaic syndrome, Pallister-Killian syndrome, Pallister-Killian-Teschler-Nicola syndrome, KillianTeschler-Nicola syndrome, and others. Some early cases were misinterpreted as mosaic tetrasomy 21q q. It...
متن کاملa comparison of teachers and supervisors, with respect to teacher efficacy and reflection
supervisors play an undeniable role in training teachers, before starting their professional experience by preparing them, at the initial years of their teaching by checking their work within the proper framework, and later on during their teaching by assessing their progress. but surprisingly, exploring their attributes, professional demands, and qualifications has remained a neglected theme i...
15 صفحه اولذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1985
ISSN: 1468-6244
DOI: 10.1136/jmg.22.3.222