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. Mariman; B. C. Hamel; H. Himmelbauer; A. M. Frischauf; R. Stallings; G. C. Beverstock; G. J. van Ommen; R. C. 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. Mariman, B. C. Hamel, H. Himmelbauer, A. M. Frischauf, R. Stallings, G. C. Beverstock, G. J. van Ommen, R. C. Hennekam

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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 conformation 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
Journal	American journal of human genetics
Volume	52
Issue number	2
Publication status	Published - 1993

Cite this

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., Hamel, B. C., Himmelbauer, H., Frischauf, A. M., Stallings, R., Beverstock, G. C., van Ommen, G. J., & Hennekam, R. C. (1993). Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. American journal of human genetics, 52(2), 249-254.

@article{be0c45bcbd914a4ba00b511f8c69de9c,

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 conformation 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.} and Hamel, {B. C.} and H. Himmelbauer and Frischauf, {A. M.} and R. Stallings and Beverstock, {G. C.} and {van Ommen}, {G. J.} and Hennekam, {R. C.}",

year = "1993",

language = "English",

volume = "52",

pages = "249--254",

journal = "American journal of human genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "2",

}

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, EC, Hamel, BC, Himmelbauer, H, Frischauf, AM, Stallings, R, Beverstock, GC, van Ommen, GJ & Hennekam, RC 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.

AU - Hamel, B. C.

AU - Himmelbauer, H.

AU - Frischauf, A. M.

AU - Stallings, R.

AU - Beverstock, G. C.

AU - van Ommen, G. J.

AU - Hennekam, R. C.

PY - 1993

Y1 - 1993

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 conformation 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 conformation of the clinical diagnosis in new patients and provides an excellent tool for the isolation of the gene causally related to the syndrome

M3 - Article

C2 - 8430691

SN - 0002-9297

VL - 52

SP - 249

EP - 254

JO - American journal of human genetics

JF - American journal of human genetics

IS - 2

ER -