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Pure Duplication 1q41-qter: Further Delineation of Trisomy 1q Syndromes
(Wiley-Blackwell, 2008-10-15)
Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched ...
Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications
(BioMed Central, 2014-04-24)
Abstract
Background
Complex small supernumerary marker chromosomes (sSMCs) consist of chromosomal material derived from more than one chromosome and have been implicated ...
Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up
(BMC, 2014-08-22)
Background
Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific ...
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications
(2013)
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications: We report on a constitutional dup(7)(q21q22.2) and compile 25 similar mid-7q imbalances in order to sort out relevant cytogenetic aspects. The propositus ...
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications
(2013)
De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications: We report on a constitutional dup(7)(q21q22.2) and compile 25 similar mid-7q imbalances in order to sort out relevant cytogenetic aspects. The propositus ...
Mesial temporal lobe abnormalities in a family with 15q26qter trisomy
(Amer Medical AssocChicagoEUA, 2002)
Schilbach–Rott syndrome associated with 9q22.32q22.33 duplication, involving the PTCH1 gene
(2019-08-01)
Schilbach–Rott syndrome (SRS, OMIM%164220) is a disorder of unknown aetiology that is characterised by hypotelorism, epichantal folds, cleft palate, dysmorphic face, hypospadia in males and mild mental retardation in some ...
A newborn with partial pure trisomy of chromosome 7q inherited from paternal balanced translocation with congenital anomalies. a mini review
(Somil Shah, 2018-04)
We report on a familial translocation t(3;7)(3q29::7q22) leading to pure trisomy 7q22 --> 7qter in a 21-days-old boy: 46,XY,der(3;7)(3pter--> 3q29::7q22--> 7pter). By conventional citogenetic techniques including fluorescence ...