Toriello-Carey syndrome phenotype and chromosome anomalies

American Journal of Medical Genetics, Part A

Volumn 146, Issue 1, 2008, Pages 116-

  Toriello, Helga V ^a   Hatchwell, Eli ^b  

^a Genetic Services   (United States)

^b STONY BROOK UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHILD; CHROMOSOME 10Q; CHROMOSOME 16P; CHROMOSOME 1Q; CHROMOSOME 22Q; CHROMOSOME 4; CHROMOSOME 6Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; DUANE RETRACTION SYNDROME; FLUORESCENCE IN SITU HYBRIDIZATION; GLAUCOMA; HUMAN; NOTE; PHENOTYPE; PRIORITY JOURNAL; TELOMERE; TORIELLO CAREY SYNDROME;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 6; CHROMOSOMES, HUMAN, PAIR 8; DNA; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KARYOTYPING; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; SYNDROME; TRANSLOCATION, GENETIC;

EID: 37549069655     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32057     Document Type: Note

References (6)

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3. Martin-Denavit T, Till M, Plauchu H. 2004. Toriello-Carey syndrome and unbalanced translocation t(8;18)(p12;q22). Am J Med Genet Part A 128A:219-221.
4. Sensi A, Prontera P, Buldrini B, Palma S, Aiello V, Gruppioni R, Calzolari E, Volinia S, Martini A. 2007. A patient with Toriello-Carey syndrome like phenotype and a complex intrachromosomal rearrangement of chromosome 4 characterized by array-CGH. Am J Med Genet Part A (in press).
5. Till M, Bourgeois J, Plauchu H. 1997. Toriello-Carey syndrome. Am J Med Genet 70:332.
6. Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. 2003. Toriello-Carey syndrome: Delineation and review. Am J Med Genet Part A 123A:84-890.