Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient, health professional and commissioner preferences for array comparative genomic hybridisation

Autor: Stephen C Robson, Lyn S Chitty, Stephen Morris, Talitha Verhoef, Gareth Ambler, Diana G Wellesley, Ruth Graham, Claire Leader, Jane Fisher, John A Crolla

Publikováno v: Efficacy and Mechanism Evaluation, Vol 4, Iss 1 (2017)

Background: Current pathways for testing fetuses at increased risk of a chromosomal anomaly because of an ultrasound anomaly involve karyotyping after rapid aneuploidy exclusion. Chromosomal microarray (CMA) may detect more clinically significant chr

Externí odkaz: https://doaj.org/article/9f6f49cd6f084059a762f7c9ecfd3232

Pallister-Killian syndrome: a study of 22 British patients

Autor: Viv K. Maloney, John A. Crolla, Diana Baralle, Morag N. Collinson, Sarah J. Beal, I. Karen Temple, Moira Blyth, Shuwen Huang

Publikováno v: Journal of Medical Genetics. 52:454-464

Background Pallister-Killian syndrome is a rare, sporadic condition caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). The main features are intellectual disability, seizures, dysmorphic features and a variety of congenital malformat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a30c8b516afdd3719337e0ea68a7ddd
https://doi.org/10.1136/jmedgenet-2014-102877

Controversies in prenatal diagnosis 3: should everyone undergoing invasive testing have a microarray?

Autor: John A. Crolla, Ronald J. Wapner, Jan M. M. van Lith

Publikováno v: Prenatal Diagnosis. 34:18-22

Chromosomal microarrays (CMA) are routinely used in postnatal genetic diagnosis. CMA is technically applicable in prenatal diagnosis. Pros and cons of routine use are discussed; technical aspects and dseign of array, yield, interpretation of CNV and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::64ff84d6662c36e5f7f202313e706f3a
https://doi.org/10.1002/pd.4287

8p23.1 duplication syndrome; common, confirmed, and novel features in six further patients

Autor: Sara Ellingwood, Wendy E. Smith, John C K Barber, Arayamparambil C. Anilkumar, Yara Kharbutli, Viv K. Maloney, Keith Eddleman, Michael Marble, Allen N. Lamb, John A. Crolla, Regina Zambrano, Mark S. Bateman, Samantha Baker, Valerie Banks, Nicola Foulds, N. Simon Thomas, Jill A. Rosenfeld, Lakshmi Mehta, Sophie R. Laird

Publikováno v: American Journal of Medical Genetics Part A. 161:487-500

The 8p23.1 duplication syndrome is a relatively rare genomic condition that has been confirmed with molecular cytogenetic methods in only 11 probands and five family members. Here, we describe another prenatal and five postnatal patients with de novo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0771922132c73438b8f43df63bfb2ed3
https://doi.org/10.1002/ajmg.a.35767

Recurrent duplications of 17q12 associated with variable phenotypes

Autor: Elke Van Oudenhove, Nicolette S. den Hollander, Tomas W Fitzgerald, Luis F. Escobar, Andrew G. L. Douglas, Alessandra Renieri, Charles E. Schwartz, Heather C Mefford, Nigel P. Carter, Serena Piazzolla, Maria Kibaek, Jennelle C. Hodge, Arnaud Vanlander, Pinella Failla, Amy Lawson Yuen, John A. Crolla, Bert Callewaert, Mark C. Hannibal, Veronica Bizzarri, Marco Fichera, Elyse Mitchell, Corrado Romano, Evan E. Eichler, Maria Rita Digilio, Sandra Janssens, Cindy Skinner, Diana Rajan, Emanuela Avola, Antonino Alberti, Anne Slavotinek, Maria Antonietta Mencarelli, Susanne Kjaegaard

Publikováno v: Mitchell, E, Douglas, A, Kjaegaard, S, Callewaert, B, Vanlander, A, Janssens, S, Yuen, A L, Skinner, C, Failla, P, Alberti, A, Avola, E, Fichera, M, Kibæk, M, Digilio, M C, Hannibal, M C, den Hollander, N S, Bizzarri, V, Renieri, A, Mencarelli, M A, Fitzgerald, T, Piazzolla, S, van Oudenhove, E, Romano, C, Schwartz, C, Eichler, E E, Slavotinek, A, Escobar, L, Rajan, D, Crolla, J, Carter, N, Hodge, J C & Mefford, H C 2015, ' Recurrent duplications of 17q12 associated with variable phenotypes ', American Journal of Medical Genetics. Part A, vol. 167, no. 12, pp. 3038-3045 . https://doi.org/10.1002/ajmg.a.37351

The ability to identify the clinical nature of the recurrent duplication of chromosome 17q12 has been limited by its rarity and the diverse range of phenotypes associated with this genomic change. In order to further define the clinical features of a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::343bd2fbf9c688d99c076df37c57f538
https://portal.findresearcher.sdu.dk/da/publications/8e11dfd2-922c-405b-bf3e-3bd41ce6ac7f