Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: A new diagnostic approach

N. Shouman; B. Pabst; M. Arslan-Kirchner; A. Eckardt; R. Schönweiler; M. Ptok; Y. Mehraein; J. Schmidtke; Konstantin Miller

doi:10.1054/ijom.2002.0336

Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: A new diagnostic approach

N. Shouman, B. Pabst, M. Arslan-Kirchner, A. Eckardt, R. Schönweiler, M. Ptok, Y. Mehraein, J. Schmidtke, Konstantin Miller^*

^*Corresponding author for this work

Clinic of Otorhinolaryngology

7 Citations (Scopus)

Abstract

A new approach for the detection of chromosome deletion 22q11.2 in interphase nuclei from buccal mucosa cells obtained by a non-invasive procedure is decribed. FISH analysis has been performed on samples from a group of 101 patients that presented consecutively for speech therapy and/or surgical correction of cleft palate. A normal result has been obtained in 98 patients; a deletion 22q11.2 was present in three patients (2.8%) with cleft palate.

Original language	English
Journal	International Journal of Oral and Maxillofacial Surgery
Volume	32
Issue number	2
Pages (from-to)	198-200
Number of pages	3
ISSN	0901-5027
DOIs	https://doi.org/10.1054/ijom.2002.0336
Publication status	Published - 2003

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10.1054/ijom.2002.0336

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Shouman, N., Pabst, B., Arslan-Kirchner, M., Eckardt, A., Schönweiler, R., Ptok, M., Mehraein, Y., Schmidtke, J., & Miller, K. (2003). Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: A new diagnostic approach. International Journal of Oral and Maxillofacial Surgery, 32(2), 198-200. https://doi.org/10.1054/ijom.2002.0336

@article{5d06202f21fc485c80da4ac2d0a9b13f,

title = "Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: A new diagnostic approach",

abstract = "A new approach for the detection of chromosome deletion 22q11.2 in interphase nuclei from buccal mucosa cells obtained by a non-invasive procedure is decribed. FISH analysis has been performed on samples from a group of 101 patients that presented consecutively for speech therapy and/or surgical correction of cleft palate. A normal result has been obtained in 98 patients; a deletion 22q11.2 was present in three patients (2.8%) with cleft palate.",

author = "N. Shouman and B. Pabst and M. Arslan-Kirchner and A. Eckardt and R. Sch{\"o}nweiler and M. Ptok and Y. Mehraein and J. Schmidtke and Konstantin Miller",

note = "Funding Information: This work was supported by a grant of the Syrian Ministry of Education.",

year = "2003",

doi = "10.1054/ijom.2002.0336",

language = "English",

volume = "32",

pages = "198--200",

journal = "International Journal of Oral and Maxillofacial Surgery",

issn = "0901-5027",

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}

Shouman, N, Pabst, B, Arslan-Kirchner, M, Eckardt, A, Schönweiler, R, Ptok, M, Mehraein, Y, Schmidtke, J & Miller, K 2003, 'Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: A new diagnostic approach', International Journal of Oral and Maxillofacial Surgery, vol. 32, no. 2, pp. 198-200. https://doi.org/10.1054/ijom.2002.0336

Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: A new diagnostic approach. / Shouman, N.; Pabst, B.; Arslan-Kirchner, M. et al.

In: International Journal of Oral and Maxillofacial Surgery, Vol. 32, No. 2, 2003, p. 198-200.

Research output: Journal Articles › Journal articles › Research › peer-review

TY - JOUR

T1 - Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: A new diagnostic approach

AU - Shouman, N.

AU - Pabst, B.

AU - Arslan-Kirchner, M.

AU - Eckardt, A.

AU - Schönweiler, R.

AU - Ptok, M.

AU - Mehraein, Y.

AU - Schmidtke, J.

AU - Miller, Konstantin

N1 - Funding Information: This work was supported by a grant of the Syrian Ministry of Education.

PY - 2003

Y1 - 2003

N2 - A new approach for the detection of chromosome deletion 22q11.2 in interphase nuclei from buccal mucosa cells obtained by a non-invasive procedure is decribed. FISH analysis has been performed on samples from a group of 101 patients that presented consecutively for speech therapy and/or surgical correction of cleft palate. A normal result has been obtained in 98 patients; a deletion 22q11.2 was present in three patients (2.8%) with cleft palate.

AB - A new approach for the detection of chromosome deletion 22q11.2 in interphase nuclei from buccal mucosa cells obtained by a non-invasive procedure is decribed. FISH analysis has been performed on samples from a group of 101 patients that presented consecutively for speech therapy and/or surgical correction of cleft palate. A normal result has been obtained in 98 patients; a deletion 22q11.2 was present in three patients (2.8%) with cleft palate.

UR - http://www.scopus.com/inward/record.url?scp=0037650172&partnerID=8YFLogxK

U2 - 10.1054/ijom.2002.0336

DO - 10.1054/ijom.2002.0336

M3 - Journal articles

C2 - 12729782

AN - SCOPUS:0037650172

VL - 32

SP - 198

EP - 200

JO - International Journal of Oral and Maxillofacial Surgery

JF - International Journal of Oral and Maxillofacial Surgery

SN - 0901-5027

IS - 2

ER -

Search for deletion 22q11.2 in interphase nuclei of buccal mucosa of patients ascertained by isolated cleft palate: A new diagnostic approach

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