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Multiple cytogenetic clones in a basal cell carcinoma
(1991-08-28)
Chromosome analysis of short-term culture of a basal cell carcinoma showed five clonal chromosome abnormalities, t(9;14)(q12 or q13;p11), del(1)(q23 or q25), trisomy 5, trisomy 7, and monosomy X. In addition, several ...
Multiple cytogenetic clones in a basal cell carcinoma
(1991-08-28)
Chromosome analysis of short-term culture of a basal cell carcinoma showed five clonal chromosome abnormalities, t(9;14)(q12 or q13;p11), del(1)(q23 or q25), trisomy 5, trisomy 7, and monosomy X. In addition, several ...
Velocardiofacial syndrome with a rare t(2;22)
(2007-07-01)
Rearrangements involving chromosomes 2 and 22 were described not only as acquired abnormalities in a variety of human neoplasias but also in the constitutional karyotype suggesting the existence of a greater fragility in ...
Pseudoautosomal abnormalities in terminal AZFb+c deletions are associated with isochromosomes Yp and may lead to abnormal growth and neuropsychiatric function
(Oxford University Press, 2017)
© The Author 2016. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. STUDY QUESTION: Are copy number variations (CNVs) in the pseudoautosomal ...
Cytogenetic and molecular profile of genetic diseases in Puerto Montt main hospital Caracterización citogenético-molecular de enfermedades genéticas en el hospital base de Puerto Montt
(2011)
Background: Chromosome aberrations (CA) are the main etiology of multiple congenital malformations, recurrent abortions and intellectual disability (ID) specifically of moderate and severe degree. They account for 0.3 to ...
Evaluation of constitutional chromosome aberrations in hematologic disorders
(Elsevier Science Inc, 2002-04)
We have reviewed 4164 patients with various hematologic disorders cytogenetically studied in our laboratory during the last 25 years to analyze the frequency of constitutional chromosome aberrations (CCA) and to evaluate ...
Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders
(2002-02-01)
The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly ...
Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders
(2002-02-01)
The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly ...
Síndrome de Prader-Willi. Tratamiento con hormona de crecimiento en dos casos: Report of two cases
(Sociedad Médica de Santiago, 2001)