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Eric Engel (1980)
A new genetic concept: uniparental disomy and its potential effect, isodisomy.American journal of medical genetics, 6 2
D. Ledbetter, E. Engel (1995)
Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis.Human molecular genetics, 4 Spec No
D. Kalousek, I. Barrett (1994)
Genomic imprinting related to prenatal diagnosisPrenatal Diagnosis, 14
Loretta Spotila, L. Sereda, D. Prockop (1992)
Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus.American journal of human genetics, 51 6
S. Cassidy, L. Lai, R. Erickson, Lois Magnuson, Eappen Thomas, Richard Gendron, J. Herrmann (1992)
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy.American journal of human genetics, 51 4
J. Spence, R. Perciaccante, G. Greig, H. Willard, D. Ledbetter, J. Hejtmancik, M. Pollack, W. O'Brien, A. Beaudet (1988)
Uniparental disomy as a mechanism for human genetic disease.American journal of human genetics, 42 2
D. Kotzot, D. Kotzot, S. Schmitt, F. Bernasconi, F. Bernasconi, W. Robinson, W. Robinson, I. Lurie, H. Ilyina, K. Méhes, B. Hamel, B. Hamel, B. Otten, M. Hergersberg, M. Hergersberg, E. Werder, E. Schoenle, A. Schinzel, A. Schinzel (1995)
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation.Human molecular genetics, 4 4
E. Schubert, F. Bischoff, L. Whitaker, L. Pleasants, M. Hansen (1993)
A method to isolate DNA from small archival tissue samples for p53 gene analysisHuman Mutation, 2
J. Vaughan, Z. Ali, S. Bower, P. Bennett, T. Chard, G. Moore (1994)
Human maternal uniparental disomy for chromosome 16 and fetal developmentPrenatal Diagnosis, 14
L. Shaffer, J. Overhauser, Laird Jackson, D. Ledbetter (1993)
Genetic syndromes and uniparental disomy: a study of 16 cases of Brachmann-de Lange syndrome.American journal of medical genetics, 47 3
B. Dwokniczak, B. Koppers, G. Kurlemann, W. Holzgreve, J. Horst, P. Miny (1992)
Uniparental disomy with normal phenotypeThe Lancet, 340
Carrie Jones, C. Booth, D. Rita, L. Jazmines, R. Spiro, Brian McCulloch, C. McCaskill, L. Shaffer (1995)
Identification of a case of maternal uniparental disomy of chromosome 10 associated with confined placental mosaicismPrenatal Diagnosis, 15
T. Hassold, D. Pettay, S. Freeman, M. Grantham, N. Takaesu (1991)
Molecular studies of non-disjunction in trisomy 16.Journal of Medical Genetics, 28
D. Kalousek, P. Howard‐Peebles, S. Olson, I. Barrett, A. Dorfmann, S. Black, J. Schulman, R. Wilson (1991)
Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicismPrenatal Diagnosis, 11
A. Bowcock, S. Osborne-Lawrence, Robert Barnes, Aravinda Chakravarti, S. Washington, Corky Dunn (1993)
Microsatellite polymorphism linkage map of human chromosome 13q.Genomics, 15 2
R. Voss, Elena Ben-Simon, A. Avital, Simon Godfrey, T. Zlotogora, J. Dagan, Yaron, Tikochinskij, Jossi HillelS (1989)
Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?American journal of human genetics, 45 3
D. Kalousek, S. Langlois, I. Barrett, I. Yam, Douglas Wilson, N. Patricia, Howard-Peebles, P. Mark, Johnson, E. Giorgiutti (1993)
Uniparental disomy for chromosome 16 in humans.American journal of human genetics, 52 1
B. Pletcher, M. Sanz, Jerrold Schlessel, Suphat Kunaporn, Carrie McKenna, M. Bialer, M. Alonso, A. Zaslav, W. Brown, J. Ray (1994)
Postnatal confirmation of prenatally diagnosed trisomy 16 mosaicism in two phenotypically abnormal livebornsPrenatal Diagnosis, 14
P. Höglund, C. Holmberg, A. Chapelle, J. Kere (1994)
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea.American journal of human genetics, 55 4
J. Wolstenholme (1995)
An audit of trisomy 16 in manPrenatal Diagnosis, 15
F. Burke, A. Flatt (1979)
Clinodactyly A Review of a Series of CasesJournal of Hand Surgery (European Volume), os-11
L. Avellán (1975)
The incidence of hypospadias in Sweden.Scandinavian journal of plastic and reconstructive surgery, 9 2
K Bzoch, R League (1991)
Receptive‐Expressive Emergent Language Scale
S Parks (1992)
Hawaii Early Learning Profile (HELP)
N. Lindor, Syeed Jalal, S. Thibodeau, Denise Bonde, Kristen Sauser, P. Karnes (1993)
Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16Clinical Genetics, 44
B. Škvařilová, Z. Šmahel (1984)
Clinodactyly--frequency and morphological implications.Acta chirurgiae plasticae, 26 2
M. Whiteford, J. Coutts, L. Al‐Roomi, A. Mather, G. Lowther, A. Cooke, J. Vaughan, G. Moore, J. Tolmie (1995)
Uniparental isodisomy for chromosome 16 in a growth‐retarded infant with congenital heart diseasePrenatal Diagnosis, 15
AEH Emery, DL Rimoin (1983)
Principles and Practice of Medical Genetics
P. Bennett, J. Vaughan, D. Henderson, S. Loughna, G. Moore (1992)
Association between confined placental trisomy, fetal uniparental disomy, and early intrauterine growth retardationThe Lancet, 340
S. Purvis-Smith, T. Saville, S. Manass, M. Yip, P. Lam‐Po‐Tang, B. Duffy, H. Johnston, D. Leigh, B. McDonald (1992)
Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.American journal of human genetics, 50 6
T. Hassold, P. Jacobs (1984)
Trisomy in man.Annual review of genetics, 18
Uniparental disomy for chromosome 16 has been previously identified in fetal deaths and newborn infants with limited follow‐up. Thus there is a lack of information about the long‐term effects of maternal uniparental disomy 16 on growth and development. We present a case of maternal heterodisomy for chromosome 16 and a comprehensive 4‐year physical and cognitive evaluation.
American Journal of Medical Genetics Part A – Wiley
Published: Nov 11, 1996
Keywords: ; ; ; ;
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