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Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1
(KARGER, 2009)
Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor ...
Novel Complex Unbalanced Dicentric X-Autosome Rearrangement in a Thoroughbred Mare with a Mild Effect on the Phenotype
(KargerSuiza, 2020-11-05)
Complex structural X chromosome abnormalities are rare in humans and animals, and not recurrent. Yet, each case provides a fascinating opportunity to evaluate X chromosome content and functional status in relation to the ...
Alterações estruturais envolvendo o cromossomo x: impacto da inativação preferencial no fenótipo dos pacientes
(Universidade Federal de São Paulo (UNIFESP), 2016-01-07)
X-chromosome rearrangements are usually associated with distinct X inactivation patterns, which can influence in patient?s phenotype. To better understand the mechanisms involved in cell selection and the clinical consequences ...
Autism spectrum disorder in a girl with a de novo x;19 balanced translocation
(Hindawi Publishing Corporation, 2012)
Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders ...
Análise cromossômica por microarranjos aplicada à identificação de alterações genômicas em pacientes com fissura lábio palatina
(BrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM CIÊNCIAS DA SAÚDE, 2019-11-12)
Non-syndromic orofacial clefts (OFC) consist of craniofacial malformations
characterized by the presence of abnormal spaces or gaps in the upper lip, alveolus
and/or palate, which may have effects on speech, hearing, ...
Uso do MLPA para diagnóstico de pacientes com deficiência intelectual e/ou atraso do desenvolvimento sindrômicos
(Universidade Federal de Minas GeraisUFMG, 2016-07-20)
The prevalence of intellectual disability (ID) in general population is estimated to be between 1% to 3%. It is often associated with global developmental delay (GDD) and others important features as congenital malformations ...
Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism
(2011)
We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ?17-Mb 5q terminal duplication and an ?12-Mb 9p terminal deletion as determined by G-banding, ...
Analysis of complex structural variants in the DMD gene in one family
(Pergamon-Elsevier Science Ltd, 2021-03)
This work describes a family with Duchenne Muscular Dystrophy (DMD) with a rare case of a symptomatic pregnant woman. The main aim was to perform prenatal molecular diagnosis to provide genetic counseling. The secondary ...