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D. Driscoll, M. Budarf, B. Emanuel (1992)
A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.American journal of human genetics, 50 5
D. Driscoll, N. Spinner, N. Spinner, M. Budarf, M. Budarf, D. McDonald-McGinn, D. McDonald-McGinn, E. Zackai, E. Zackai, R. Goldberg, R. Shprintzen, H. Saal, J. Zonana, Marilyn Jones, J. Mascarello, B. Emanuel, B. Emanuel (1992)
Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome.American journal of medical genetics, 44 2
H. Mendez, J. Opitz, J. Reynolds (1985)
Noonan syndrome: a review.American journal of medical genetics, 21 3
D. Driscoll, J. Salvin, B. Sellinger, M. Budarf, D. McDonald-McGinn, E. Zackai, B. Emanuel (1993)
Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.Journal of Medical Genetics, 30
J Burn, A Takao, D Wilson, I Cross, K Momma, R Wadey, P Scambler, J Goodship (1993)
Conotruncal face anomaly is associated with a deletion within chromosome 22qll, 30
J. Burn, A. Takao, D. Wilson, I. Cross, K. Momma, R. Wadey, P. Scambler, J. Goodship
Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22ql 1
E. Goldmuntz, D. Driscoll, M. Budarf, E. Zackai, D. McDonald-McGinn, J. Biegel, B. Emanuel (1993)
Microdeletions of chromosomal region 22q11 in patients with congenital conotruncal cardiac defects.Journal of Medical Genetics, 30
D. Wilson, S. Britton, C. Mckeown, D. Kelly, I. Cross, S. Strobel, P. Scambler (1993)
Noonan's and DiGeorge syndromes with monosomy 22q11.Archives of Disease in Childhood, 68
David Kelly, R. Goldberg, D. Wilson, Elizabeth Lindsay, Alisoun Carey, J. Goodship, J. Burn, I. Cross, R. Shprintzen, P. Scambler (1993)
Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.American journal of medical genetics, 45 3
J Allanson (1985)
Noonan syndrome, 24
J. Allanson, J. Hall, H. Hughes, M. Preus, R. Witt, J. Opitz, J. Reynolds (1985)
Noonan syndrome: the changing phenotype.American journal of medical genetics, 21 3
Deletions of 22qll cause DiGeorge sequence (DGS), velo‐cardio‐facial syndrome (VCFS), conotruncal anomaly face syndrome, and some isolated conotruncal heart anomalies. Demonstration of a 22qll deletion in a patient with manifestations of DGS and Noonan syndrome (NS) has raised the question of whether NS is another of the chromosome 22 microdeletion syndromes. This prompted us to evaluate a cohort of patients with NS for evidence of 22qll deletions. Five of 6 NS propositi studied in our laboratory with marker N25 (D22S75) did not have a 22qll deletion. A 2‐month‐old infant with several findings suggestive of NS did have a 22qll deletion, suggesting that a small number of 22qll deletion propositi may present with a NS‐like picture. However, most cases of NS must have another cause. © 1995 Wiley‐Liss, Inc.
American Journal of Medical Genetics Part A – Wiley
Published: Jan 13, 1996
Keywords: ; ; ;
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