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From Suspected Congenital Cytomegalovirus Infection to Malan Syndrome: Delayed Genetic Diagnosis Due to Diagnostic Anchoring. [PDF]

Diseases
Kovacevic G, Cirkovic S, Petrovic G, Stanojevic M, Lalic T, Ilic N, Ostojic S, Siljic M, Alimpic B, Tesic M, Ilic P, Krstic J, Cirkovic J, Sarajlija A.   +13 more
europepmc   +1 more source

3q26.33–3q27.2 Microdeletion: A New Microdeletion Syndrome? [PDF]

European Journal of Medical Genetics, 2013
We describe three unrelated patients of European descent carrying an overlapping 3q26.33-3q27.2 microdeletion who share common clinical features: neonatal hypotonia, severe feeding problems, specific facial features, abnormal dentition, recurrent upper airways infections, developmental delay and severe growth impairment.
Francesca Forzano, Domenico Coviello, Emilio di Maria   +2 more
exaly   +4 more sources

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Microdeletion syndromes

Current Opinion in Genetics & Development, 2013
The recent explosion in the implementation of genome-wide microarray technology to discover rare, pathogenic genomic rearrangements in a variety of diseases has led to the discovery of numerous microdeletion syndromes. It is now clear that these microdeletions are associated with extensive phenotypic heterogeneity and incomplete penetrance. A subset of
Gemma L, Carvill, Heather C, Mefford
openaire   +2 more sources

Delineation of 15q13.3 microdeletions

Clinical Genetics, 2010
Masurel‐Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin‐Robinet C, Doray B, Flori E, Alex‐Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert‐Dussardier B, Dubourg C, Labalme A, Gautier A, Pernes P, Bidon C, Pinoit JM, Huet F, Mugneret F, Aral B,
Masurel-Paulet, Alice, Andrieux, Joris, Callier, Patrick, Cuisset, Jean-Marie, Le Caignec, Cédric, Holder-Espinasse, Muriel, Thauvin-Robinet, Christel, Doray, Bérénice, Flori, Elizabeth, Alex-Cordier, Marie-Pierre, Beri, Mylène, Boute, Odile, Delobel, Bruno, Dieux, Anne, Vallée, Louis, Jaillard, Sylvie, Odent, Sylvie, Isidor, Bertrand, Beneteau, Claire, Vigneron, Jaqueline, Bilan, Frédéric, Gilbert-Dussardier, Brigitte, Dubourg, Christele, Labalme, Audrey, Bidon, C., Gautier, Agnès, Pernes, Philippe, Pinoit, Jean-Michel, Huet, Frédéric, Mugneret, Francine, Aral, Bernard, Jonveaux, Philippe, Sanlaville, Damien, Faivre, Laurence   +33 more
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Microdeletion 3q Syndrome

Journal of Craniofacial Surgery, 2011
The authors present the clinical case of a 5-month-old boy, affected by multimalformative syndrome with features of microdeletion 3q syndrome. In the literature so far, the real incidence is unknown because of its rarity. The goal of this study was to describe the salient findings of this rare malformative syndrome, which needs a multidisciplinary ...
RAMIERI, VALERIO, TARANI, Luigi, COSTANTINO, Francesco, BASILE, EMANUELA, Natascia Liberati, RINNA, CLAUDIO, CASCONE, PIERO, COLLORIDI, Fiorenza   +7 more
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Microdeletion and Microduplication Syndromes

2011
During the past decade, widespread use of microarray-based technologies, including oligonucleotide array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) genotyping arrays have dramatically changed our perspective on genome-wide structural variation.
Peart-Vissers, L.E.L.M., Stankiewicz, P.
openaire   +3 more sources

17q12 microdeletion syndrome

BMJ Case Reports
An infant girl presented with multiple blisters followed by peeling of the skin over the entire body for 5 days with a prodrome of fever and cough. The child had dysmorphic facies, growth faltering and developmental delay. The ultrasonogram of the abdomen showed multiple small cysts in both kidneys with increased echogenicity and loss of ...
Viswanadhula S L V Bhargav, Mahesh Venkatachari, Thirunavukkarasu Arun Babu   +2 more
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Microdeletion and microduplication syndromes

Prenatal Diagnosis, 1996
Microdeletions or microduplications have been shown to be associated with a number of important clinical conditions. In most cases no single gene within the segment has been identified as giving rise to the phenotype. The chromosomal rearrangements are generally too small to be identified reliably by standard cytogenetics, but a combination of FISH and
openaire   +2 more sources