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Case Reports

. 2010;65(1):107-9.

doi: 10.1590/S1807-59322010000100016.

Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis

Leuridan Cavalcante Torres, Maria de Lourdes Lopes Chauffaille, Thomaz Pileggi Delboni, Thelma Suely Okay, Magda Carneiro-Sampaio, Sofia Sugayama

PMID: 20126353
PMCID: PMC2815272
DOI: 10.1590/S1807-59322010000100016

Free PMC article

Case Reports

Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis

Leuridan Cavalcante Torres et al. Clinics (Sao Paulo). 2010.

Free PMC article

. 2010;65(1):107-9.

doi: 10.1590/S1807-59322010000100016.

Authors

Leuridan Cavalcante Torres, Maria de Lourdes Lopes Chauffaille, Thomaz Pileggi Delboni, Thelma Suely Okay, Magda Carneiro-Sampaio, Sofia Sugayama

PMID: 20126353
PMCID: PMC2815272
DOI: 10.1590/S1807-59322010000100016

Erratum in

Clinics (Sao Paulo). 2011;66(11):1999

No abstract available

PubMed Disclaimer

Figures

Figure 1
A patient with the facial dysmorphisms typical of RTS

Figure 2
Broad and radially deviated thumbs

Figure 3
GTG banding karyotype

See this image and copyright information in PMC

Comment in

Further peer review failures.
Rivera H. Rivera H. Clinics (Sao Paulo). 2011;66(10):1833. doi: 10.1590/s1807-59322011001000025. Clinics (Sao Paulo). 2011. PMID: 22012059 Free PMC article. No abstract available.

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Thyroid hypoplasia as a cause of congenital hypothyroidism in monozygotic twins concordant for Rubinstein-Taybi syndrome.
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Rivera H. Rivera H. Clinics (Sao Paulo). 2011;66(10):1833. doi: 10.1590/s1807-59322011001000025. Clinics (Sao Paulo). 2011. PMID: 22012059 Free PMC article. No abstract available.

References

1. Rubinstein JH. Broad thumbs-hallux (Rubinstein-Taybi) Syndrome 1957–1988. Am J Med Genet Supplement. 1990;6:3–16. - PubMed
1. Hennekam RCM, Stevens CA, Van de Kamp JJP. Etiology and recurrence risk in Rubinstein-Taybi syndrome. Am J Med Genet Supplement. 1990;6:56–64. - PubMed
1. Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet. 2003;119A:101–10. - PubMed
1. Stevens CA, Carey JC, Blackburn BL. Rubinstein-Taybi syndrome: a natural history study. Am J Med Genet Suppl. 1990;6:30–7. - PubMed
1. Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D. Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. Am J Med Genet A. 2007;143:570–3. - PubMed

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