Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)

American Journal of Medical Genetics, Part A

Volumn 152, Issue 11, 2010, Pages 2762-2767

  Spreiz, Ana ^a   Müller, Doris ^a   Zotter, Sibylle ^a   Albrecht, Ursula ^a   Baumann, Matthias ^a   Fauth, Christine ^a   Erdel, Martin ^a   Zschocke, Johannes ^a   Utermann, Gerd ^a   Kotzot, Dieter ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

Chromosome; Insertion; Methionine; Phenotype; Trisomy

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 21Q; CHROMOSOME 6Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COGNITIVE DEFECT; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; HUMAN; INSERTIONAL CHROMOSOME TRANSLOCATION; KARYOTYPING; MALE; MENTAL DEFICIENCY; MICROSATELLITE MARKER; NEUROPSYCHOLOGICAL TEST; OBESITY; PARTIAL TRISOMY; PERINATAL ASPHYXIA; PHENOTYPE; PHENOTYPIC VARIATION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTAGENESIS, INSERTIONAL; NEUROPSYCHOLOGICAL TESTS; PEDIGREE; PHENOTYPE; PREGNANCY; TRISOMY; YOUNG ADULT;

EID: 78049276427     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33699     Document Type: Article

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