The Philadelphia story: The 22q11.2 deletion: Report on 250 patients

D. M. McDonald-McGinn; R. Kirschner; E. Goldmuntz; K. Sullivan; P. Eicher; M. Gerdes; E. Moss; C. Solot; P. Wang; I. Jacobs; S. Handler; C. Knightly; K. Heher; M. Wilson; J. E. Ming; K. Grace; D. Driscoll; P. Pasquariello; P. Randall; D. Larossa; B. S. Emanuel; E. H. Zackai

The Philadelphia story: The 22q11.2 deletion: Report on 250 patients

D. M. McDonald-McGinn, R. Kirschner, E. Goldmuntz, K. Sullivan, P. Eicher, M. Gerdes, E. Moss, C. Solot, P. Wang, I. Jacobs, S. Handler, C. Knightly, K. Heher, M. Wilson, J. E. Ming, K. Grace, D. Driscoll, P. Pasquariello, P. Randall, D. LarossaB. S. Emanuel, E. H. Zackai

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

409 Scopus citations

Abstract

A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We describe our cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings.

Original language	English (US)
Pages (from-to)	11-24
Number of pages	14
Journal	Genetic Counseling
Volume	10
Issue number	1
State	Published - 1999
Externally published	Yes

Keywords

22q11 deletion
DiGeorge syndrome
VCFS

ASJC Scopus subject areas

Genetics(clinical)

Cite this

McDonald-McGinn, D. M., Kirschner, R., Goldmuntz, E., Sullivan, K., Eicher, P., Gerdes, M., Moss, E., Solot, C., Wang, P., Jacobs, I., Handler, S., Knightly, C., Heher, K., Wilson, M., Ming, J. E., Grace, K., Driscoll, D., Pasquariello, P., Randall, P., ... Zackai, E. H. (1999). The Philadelphia story: The 22q11.2 deletion: Report on 250 patients. Genetic Counseling, 10(1), 11-24.

McDonald-McGinn, DM, Kirschner, R, Goldmuntz, E, Sullivan, K, Eicher, P, Gerdes, M, Moss, E, Solot, C, Wang, P, Jacobs, I, Handler, S, Knightly, C, Heher, K, Wilson, M, Ming, JE, Grace, K, Driscoll, D, Pasquariello, P, Randall, P, Larossa, D, Emanuel, BS & Zackai, EH 1999, 'The Philadelphia story: The 22q11.2 deletion: Report on 250 patients', Genetic Counseling, vol. 10, no. 1, pp. 11-24.

@article{ac28d0695f0f4bf482f89e790578b298,

title = "The Philadelphia story: The 22q11.2 deletion: Report on 250 patients",

abstract = "A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We describe our cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings.",

keywords = "22q11 deletion, DiGeorge syndrome, VCFS",

author = "McDonald-McGinn, {D. M.} and R. Kirschner and E. Goldmuntz and K. Sullivan and P. Eicher and M. Gerdes and E. Moss and C. Solot and P. Wang and I. Jacobs and S. Handler and C. Knightly and K. Heher and M. Wilson and Ming, {J. E.} and K. Grace and D. Driscoll and P. Pasquariello and P. Randall and D. Larossa and Emanuel, {B. S.} and Zackai, {E. H.}",

year = "1999",

language = "English (US)",

volume = "10",

pages = "11--24",

journal = "Genetic Counseling",

issn = "1015-8146",

publisher = "Editions Medecine et Hygiene",

number = "1",

}

TY - JOUR

T1 - The Philadelphia story

T2 - The 22q11.2 deletion: Report on 250 patients

AU - McDonald-McGinn, D. M.

AU - Kirschner, R.

AU - Goldmuntz, E.

AU - Sullivan, K.

AU - Eicher, P.

AU - Gerdes, M.

AU - Moss, E.

AU - Solot, C.

AU - Wang, P.

AU - Jacobs, I.

AU - Handler, S.

AU - Knightly, C.

AU - Heher, K.

AU - Wilson, M.

AU - Ming, J. E.

AU - Grace, K.

AU - Driscoll, D.

AU - Pasquariello, P.

AU - Randall, P.

AU - Larossa, D.

AU - Emanuel, B. S.

AU - Zackai, E. H.

PY - 1999

Y1 - 1999

N2 - A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We describe our cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings.

AB - A submicroscopic deletion of chromosome 22q11.2 has been identified in the majority of patients with the DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes, and in some patients with the Opitz G/BBB and Cayler cardiofacial syndromes. We have been involved in the analysis of DiGeorge syndrome and related diagnoses since 1982 and have evaluated a large number of patients with the deletion. We describe our cohort of 250 patients whose clinical findings help to define the extremely variable phenotype associated with the 22q11.2 deletion and may assist clinicians in providing genetic counseling and guidelines for clinical management based on these findings.

KW - 22q11 deletion

KW - DiGeorge syndrome

KW - VCFS

UR - http://www.scopus.com/inward/record.url?scp=0033033492&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033033492&partnerID=8YFLogxK

M3 - Article

C2 - 10191425

AN - SCOPUS:0033033492

SN - 1015-8146

VL - 10

SP - 11

EP - 24

JO - Genetic Counseling

JF - Genetic Counseling

IS - 1

ER -

The Philadelphia story: The 22q11.2 deletion: Report on 250 patients

Abstract

Keywords

ASJC Scopus subject areas

Other files and links

Fingerprint

Cite this