Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

M. H. Breuning; H. G. Dauwerse; G. Fugazza; J. J. Saris; L. Spruit; H. Wijnen; N. Tommerup; C. B. Van der Hagen; K. Imaizumi; Y. Kuroki; M. J. Van den Boogaard -; J. M. De Pater; E. C.M. Mariman; B. C.J. Hamel; H. Himmelbauer; A. M. Frischauf -; R. L. Stallings; G. C. Beverstock; G. J.B. Van Ommen; R. C.M. Hennekam

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

M. H. Breuning^*, H. G. Dauwerse, G. Fugazza, J. J. Saris, L. Spruit, H. Wijnen, N. Tommerup, C. B. Van der Hagen, K. Imaizumi, Y. Kuroki, M. J. Van den Boogaard -, J. M. De Pater, E. C.M. Mariman, B. C.J. Hamel, H. Himmelbauer, A. M. Frischauf -, R. L. Stallings, G. C. Beverstock, G. J.B. Van Ommen, R. C.M. Hennekam

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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Abstract

The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS. The parents of five of these patients did not show a deletion of RT1, indicating a de novo rearrangement. RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately 25% of the patients. The detection of microdeletions will allow the objective confirmation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome.

Original language	English
Pages (from-to)	249-254
Number of pages	6
Journal	American Journal of Human Genetics
Volume	52
Issue number	2
Publication status	Published - 1 Jan 1993

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Breuning, M. H., Dauwerse, H. G., Fugazza, G., Saris, J. J., Spruit, L., Wijnen, H., Tommerup, N., Van der Hagen, C. B., Imaizumi, K., Kuroki, Y., Van den Boogaard -, M. J., De Pater, J. M., Mariman, E. C. M., Hamel, B. C. J., Himmelbauer, H., Frischauf -, A. M., Stallings, R. L., Beverstock, G. C., Van Ommen, G. J. B., & Hennekam, R. C. M. (1993). Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. American Journal of Human Genetics, 52(2), 249-254.

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title = "Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3",

abstract = "The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS. The parents of five of these patients did not show a deletion of RT1, indicating a de novo rearrangement. RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately 25% of the patients. The detection of microdeletions will allow the objective confirmation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome.",

author = "Breuning, {M. H.} and Dauwerse, {H. G.} and G. Fugazza and Saris, {J. J.} and L. Spruit and H. Wijnen and N. Tommerup and {Van der Hagen}, {C. B.} and K. Imaizumi and Y. Kuroki and {Van den Boogaard -}, {M. J.} and {De Pater}, {J. M.} and Mariman, {E. C.M.} and Hamel, {B. C.J.} and H. Himmelbauer and {Frischauf -}, {A. M.} and Stallings, {R. L.} and Beverstock, {G. C.} and {Van Ommen}, {G. J.B.} and Hennekam, {R. C.M.}",

year = "1993",

month = jan,

day = "1",

language = "English",

volume = "52",

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Breuning, MH, Dauwerse, HG, Fugazza, G, Saris, JJ, Spruit, L, Wijnen, H, Tommerup, N, Van der Hagen, CB, Imaizumi, K, Kuroki, Y, Van den Boogaard -, MJ, De Pater, JM, Mariman, ECM, Hamel, BCJ, Himmelbauer, H, Frischauf -, AM, Stallings, RL, Beverstock, GC, Van Ommen, GJB & Hennekam, RCM 1993, 'Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3', American Journal of Human Genetics, vol. 52, no. 2, pp. 249-254.

TY - JOUR

T1 - Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

AU - Breuning, M. H.

AU - Dauwerse, H. G.

AU - Fugazza, G.

AU - Saris, J. J.

AU - Spruit, L.

AU - Wijnen, H.

AU - Tommerup, N.

AU - Van der Hagen, C. B.

AU - Imaizumi, K.

AU - Kuroki, Y.

AU - Van den Boogaard -, M. J.

AU - De Pater, J. M.

AU - Mariman, E. C.M.

AU - Hamel, B. C.J.

AU - Himmelbauer, H.

AU - Frischauf -, A. M.

AU - Stallings, R. L.

AU - Beverstock, G. C.

AU - Van Ommen, G. J.B.

AU - Hennekam, R. C.M.

PY - 1993/1/1

Y1 - 1993/1/1

N2 - The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS. The parents of five of these patients did not show a deletion of RT1, indicating a de novo rearrangement. RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately 25% of the patients. The detection of microdeletions will allow the objective confirmation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome.

AB - The Rubinstein-Taybi syndrome (RTS) is a well-defined complex of congenital malformations characterized by facial abnormalities, broad thumbs and big toes, and mental retardation. The breakpoint of two distinct reciprocal translocations occurring in patients with a clinical diagnosis of RTS was located to the same interval on chromosome 16, between the cosmids N2 and RT1, in band 16p13.3. By using two-color fluorescence in situ hybridization, the signal from RT1 was found to be missing from one chromosome 16 in 6 of 24 patients with RTS. The parents of five of these patients did not show a deletion of RT1, indicating a de novo rearrangement. RTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately 25% of the patients. The detection of microdeletions will allow the objective confirmation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome.

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AN - SCOPUS:0027417311

SN - 0002-9297

VL - 52

SP - 249

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JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3

Abstract

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