Does the 1.5Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 2, 2012, Pages 461-464

  Faletra, Flavio ^a   D'Adamo, Adamo Pio ^b   Rocca, Maria Santa ^a   Carrozzi, Marco ^a   Perrone, Maria Dolores ^b   Pecile, Vanna ^a   Gasparini, Paolo ^b  

^a INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^b UNIVERSITY OF TRIESTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME DUPLICATION; CHROMOSOME XP; CHROMOSOME XP22.31; DEVELOPMENTAL DISORDER; FACE MALFORMATION; GENE DOSAGE; GENE LINKAGE DISEQUILIBRIUM; HUMAN; INTELLECTUAL IMPAIRMENT; KARYOTYPING; LETTER; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SINGLE NUCLEOTIDE POLYMORPHISM; CASE REPORT; CHROMOSOME BREAKAGE; GENETICS; HAND MALFORMATION; X CHROMOSOME;

PROTEIN TYROSINE PHOSPHATASE; STS 1 PROTEIN, HUMAN; STS-1 PROTEIN, HUMAN;

CHROMOSOME BREAKPOINTS; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, X; HAND DEFORMITIES, CONGENITAL; HUMANS; INTELLECTUAL DISABILITY; KARYOTYPING; MUSCLE HYPOTONIA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TYROSINE PHOSPHATASES;

EID: 84856223224     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34398     Document Type: Letter

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