Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication

scientific article published on February 2010

Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1089/GTMB.2009.0067
P698PubMed publication ID20143912

P50authorThomas A MaherQ37828462
P2093author name stringSusana Martínez
Aubrey Milunsky
Xin-Li Huang
Alicia Vaglio
Andrea Quadrelli
Búrix Mechoso
Mariana Costabel
Roberto Quadrelli
Sylvia Bellini
Sinthia Pagano
P433issue1
P407language of work or nameEnglishQ1860
P921main subjectDown syndromeQ47715
P304page(s)57-65
P577publication date2010-02-01
P1433published inGenetic Testing and Molecular BiomarkersQ15753742
P1476titleClinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication
P478volume14

Reverse relations

cites work (P2860)
Q37404053A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype.
Q36662954The telomeric part of the human chromosome 21 from Cstb to Prmt2 is not necessary for the locomotor and short-term memory deficits observed in the Tc1 mouse model of Down syndrome

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