نتایج جستجو برای: 2q duplication

تعداد نتایج: 21153  

De novo duplication of 2q is very rare. Most cases of 2q duplications result from familial translocations, and are associated with simultaneous monosomy of another chromosome segment. To our knowledge and search in English literature there are less than 20 reported cases of isolated 2q duplication. Hereby we introduce a 4.5-year-old Iranian boy of a non-consanguineous marriage who was referred ...

Journal: :Journal of medical genetics 1984
Y Mu D L Van Dyke L Weiss S Olgac

A child is described with a de novo direct duplication of the region 2q11 X 2 leads to 2q14 X 2. She probably represents the first reported case of proximal 2q duplication. The abnormalities included short stature, microcephaly, brachycephaly, depressed nasal bridge, prominent philtrum, congenital glaucoma, and mental retardation.

2014
S. AROCKIARAJ P. MAHALAKSHMI

An injective function f : V (G)→ {0, 1, 2, . . . , q} is an odd sum labeling if the induced edge labeling f∗ defined by f∗(uv) = f(u) + f(v), for all uv ∈ E(G), is bijective and f∗(E(G)) = {1, 3, 5, . . . , 2q − 1}. A graph is said to be an odd sum graph if it admits an odd sum labeling. In this paper, we have studied the odd sum property of the subdivision of the triangular snake, quadrilatera...

Journal: :Frontiers in bioscience 2012
Gail E Tomlinson

The cytogenetics of hepatoblastoma demonstrate recurring events which include whole chromosome trisomies, most commonly trisomy of chromosome 2, 8, or 10. In addition, unbalanced translocations involving a breakpoint on the proximal short arm of chromosome 1 are observed which result in a duplication of the long arm of chromosome 1q. The most commonly involved reciprocal chromosomal arm is 4q, ...

2015
Akihisa Okumura Toshiyuki Yamamoto Hirokazu Kurahashi Michihiko Takasu

More than 100 cases of deletions or duplications of the long arm of chromosome 2 have been reported. Deletion and duplication ranges vary markedly among individual patients. The relationship between range of deletion/duplication and phenotype is not well understood, although seizures and facial dysmorphism are observed commonly in patients with 2q21q31 deletions. Array comparative genomic hybri...

Journal: :Finite Fields and Their Applications 2022

In this paper, we study the weight distributions of Fq-linear sets in PG(1,q5). Our Main Theorem proves that a linear set S rank 5, which is not scattered has following distribution for its points with larger than 1: (i) one point 4 or (ii) 3 and 0, q, q2 2, (iii) s 2 where s∈[q−2q+1,q+2q+1]∪{2q,2q+1,2q+2,3q,3q+1,q2+1}. particular, there are no 2-clubs

Journal: :Genes & development 1993
C Ma S Martin B Trask J L Hamlin

We have utilized a dihydrofolate reductase (DHFR) probe in combination with selected probes from other positions along the 2q chromosome arm in a two-color fluorescence in situ hybridization analysis of early DHFR gene amplification events in CHO cells. These studies show clearly that the most frequent initiating event is the formation of a giant inverted duplication, resulting from chromosome ...

Journal: :بینا 0
عباس باقری a bagheri ocular tissue engineering research center, shahid beheshti university of medical sciences, tehran, iranمرکز تحقیقات مهندسی بافت چشم- دانشگاه علوم پزشکی شهید بهشتی- تهران- ایران رضا جعفری r jafari mazandaran university of medical sciences, sari, iran; 3ophthalmic research center, shahid beheshti university of medical sciences, tehran, iranدانشگاه علوم پزشکی مازندران- ساری- ایران محدثه فیضی m feizi mazandaran university of medical sciences, sari, iran; 3ophthalmic research center, shahid beheshti university of medical sciences, tehran, iranمرکز تحقیقات چشم- دانشگاه علوم پزشکی شهید بهشتی- تهران- ایران

purpose: to report a case who had optic disc duplication, a rare congenital disorder characterized by two well-defined discs in one eye. case report: a 19 months-old child presented with unilateral epiphora in the right eye since birthday. the right eye was smaller than the left eye and mild ptosis was apparent. nasolacrimal duct probing was performed under general anesthesia. the examination r...

2017
Julian Straub Trevor Campbell Jonathan P. How John W. Fisher

1.1. The matrix Ξkk′ In the main text, we are given two unit vectors μ1k and μ2k′ in R. We define Ξkk′ = Ξ(μ1k, μ2k′), where Ξ(u, v) ∈ R4×4 is defined by u (q ◦ v) = qΞ(u, v)q, where u = (ui, uj , uk), v = (vi, vj , vk), and q = (qi, qj , qk, qr). By standard quaternion rotation formula, we have u (q ◦ v) = ui uj uk T 1− 2q j − 2q k 2(qiqj − qkqr) 2(qiqk + qjqr) 2(qiqj + qkqr) 1− 2q i − 2...

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