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De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis
(1999)
A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication ...
De novo duplication xq22-q23 in a girl with short stature and gonadal dysgenesis
(1999)
A female of 20 years of age with short stature, gonadal dysgenesis and Turner stigmata with a de novo dup Xq22-q23 was studied. The maternal cytogenetic study was normal. This case represents the smallest Xq duplication ...
The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation
(BioMed Central, 2015)
Abstract
Background
About 7 % of karyotypically balanced chromosomal rearrangements (BCRs) are associated with congenital anomalies due to gene or regulatory element ...
Ebstein anomaly associated with cri du chat (cat's cry) syndrome and 20q duplication
Ebstein anomaly is a congenital heart defect with a low prevalence and high mortality in the early stages of life. In medical literature, there is no reported association between Ebstein anomaly and cri du chat syndrome. ...
Genomic imprinting and human chromosome 15
(Sociedad de Biología de Chile, 2001)
The hnRNP Q-like gene is retroinserted into the B chromosomes of the cichlid fish Astatotilapia latifasciata
(2017-10-01)
B chromosomes are dispensable elements observed in many eukaryotic species, including the African cichlid Astatotilapia latifasciata, which might have one or two B chromosomes. Although there have been many studies focused ...
A Rare Case of Trisomy 15pter-q21.2 Due to a De Novo Marker Chromosome
(WILEY-LISS, 2010)
Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are ...
A new case of partial 14q31.3-qter trisomy due to maternal pericentric inversion
(Elsevier Science BvAmsterdamHolanda, 2013)
Copy number variation analysis in adults with catatonia confirms haploinsufficiency of SHANK3 as a predisposing factor
(Elsevier, 2016)
Background: Catatonia is a motor dysregulation syndrome co-occurring with a variety of psychiatric and medical disorders. Response to treatment with benzodiazepines and electroconvulsive therapy suggests a neurobiological ...
Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report
(BioMed CentralFacultad Ciencias de la SaludMedicinaDepartamento de Ciencias Básicas Médicas, 2016-07-27)