Familial Subtelomeric Rearrangement of Chromosomes 19 and 20: A New Contribution to Partial Distal 19q Trisomy

scientific article published on September 20, 2010

Familial Subtelomeric Rearrangement of Chromosomes 19 and 20: A New Contribution to Partial Distal 19q Trisomy is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1089/GTMB.2010.0079
P8608Fatcat IDrelease_6dphlj4s6rehzhdxjkryzkuzki
P953full work available at URLhttp://www.liebertpub.com/doi/full-xml/10.1089/gtmb.2010.0079
http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2010.0079
P698PubMed publication ID20854099

P50authorLeda DalpràQ114563955
P2093author name stringIsabella Mammi
Serena Redaelli
Paola Drigo
Elisabetta Lenzini
Melissa Rosa-Rizzotto
P2860cites workMedical Science MonitorQ15756323
A 3 1/2 year old girl with distal trisomy 19q defined by FISHQ33677831
Cryptic subtelomeric translocations in the 22q13 deletion syndromeQ35433306
Duplication of distal 19q: clinical report and reviewQ35884564
A rare case of de novo distal 19q trisomy prenatally diagnosedQ35927009
Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilitiesQ36930079
Trisomy for the distal third of the long arm of chromosome 19 in brother and sisterQ39208440
A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arraysQ40396914
Distal 19q duplicationQ41935428
Epilepsy and trisomy 19q--different seizure patterns in a brother and a sisterQ43774643
Subtelomeric imbalances in phenotypically normal individuals.Q51903797
Subtelomere deletions and translocations are frequently familial.Q51931492
Partial trisomy of distal 19q detected by quantitative real-time PCR and FISH in a girl with mild facial dysmorphism, hypotonia and developmental delay.Q51989119
Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases.Q52011856
Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies.Q52124007
Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals.Q53499660
A cryptic unbalanced translocation resulting in del 13q and dup 15qQ58612608
First clinical case of small de novo duplication of 19q (13.3-13.4) confirmed by FISHQ73651862
P433issue5
P407language of work or nameEnglishQ1860
P304page(s)695-701
P577publication date2010-09-20
P1433published inGenetic Testing and Molecular BiomarkersQ15753742
P1476titleFamilial Subtelomeric Rearrangement of Chromosomes 19 and 20: A New Contribution to Partial Distal 19q Trisomy
P478volume14

Reverse relations

cites work (P2860)
Q3061402219q13.33→qter trisomy in a girl with intellectual impairment and seizures
Q53310147Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta.
Q56320335De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonoce
Q91038026Elongated conus medullaris, sacral agenesis and scoliosis- a case report of a patient with trisomy 19q and monosomy 7q

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