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Saint-André-lez-Lille, France

Schaefer E.,Hopitaux Universitaires Of Strasbourg | Durand M.,Hopitaux Universitaires Of Strasbourg | Stoetzel C.,French Institute of Health and Medical Research | Doray B.,Hopitaux Universitaires Of Strasbourg | And 17 more authors.
European Journal of Medical Genetics | Year: 2011

Hydrometrocolpos and polydactyly diagnosed in the prenatal period or early childhood may raise diagnostic dilemmas especially in distinguishing McKusick-Kaufman syndrome (MKKS) and the Bardet-Biedl syndrome (BBS). These two conditions can initially overlap. With time, the additional features of BBS appearing in childhood, such as retinitis pigmentosa, obesity, learning disabilities and progressive renal dysfunction allow clear differentiation between BBS and MKKS. Genotype overlap also exists, as mutations in the MKKS-BBS6 gene are found in both syndromes. We report 7 patients diagnosed in the neonatal period with hydrometrocolpos and polydactyly who carry mutations in various BBS genes (BBS6, BBS2, BBS10, BBS8 and BBS12), stressing the importance of wide BBS genotyping in patients with this clinical association for diagnosis, prognosis and genetic counselling. © 2010 Elsevier Masson SAS. Source

Houeijeh A.,Service de genetique clinique Guy Fontaine | Andrieux J.,Laboratoire Of Genetique | Saugier-Veber P.,University of Rouen | David A.,Nantes University Hospital Center | And 16 more authors.
European Journal of Medical Genetics | Year: 2011

Thrombocytopenia-absent radius Syndrome (TAR) is a rare congenital malformation syndrome of complicated transmission. 1q21.1 deletion is necessary but not sufficient for its expression. We report the result of a French multicentric clinical study, and we emphasized on the role of the associated 1q21.1 deletion in the diagnosis and the genetic counselling of our patients. We gathered information on 14 patients presenting with TAR syndrome and referred for genetic counselling in six different university hospitals (8 foetuses, 1 child and 5 adults). Clinical or pathology details, as well as skeletal X-rays were analyzed. Genetic studies were performed by Array-CGH, and Quantitative Multiplex PCR. We demonstrated the very variable phenotypes of TAR syndrome. Female:male ratio was ∼2:1. All patients presented with bilateral radial aplasia/hypoplasia with preserved thumbs. Phocomelia and lower limb anomalies were present in 28% of the cases. We reported the first case of cystic hygroma on affected foetus. 1q21.1 deletions ranging from 330 to 1100 kb were identified in all affected patients. Most of them were inherited from one healthy parent (80%). The identification of a 1q21.1 deletion allowed confirmation of TAR syndrome diagnosis, particularly in foetuses and in atypical phenotypes. Additionally, it allowed accurate genetic counselling, especially when it occurred de novo. These findings allowed discussing the diagnostic criteria and management towards TAR syndrome. © 2011 Elsevier Masson SAS. Source

Papuc S.M.,Victor Babes National Institute of Pathology | Hackmann K.,TU Dresden | Andrieux J.,Laboratoire Of Genetique Medicale | Vincent-Delorme C.,Service de genetique clinique Guy Fontaine | And 5 more authors.
European Journal of Medical Genetics | Year: 2015

We report on the clinical data and molecular cytogenetic findings in three unrelated patients presenting with intellectual disability and behavior abnormalities. An overlapping microduplication involving 3p26.2-26.3 was identified in these patients. All three aberrations were confirmed and proven to be parentally inherited. The sizes of the duplications were different, with a common minimal region of 423,754bp containing two genes - TRNT1 and CRBN. Here, we hypothesize that the copy number gain of CRBN gene might be responsible for developmental delay/intellectual disability. © 2015 Elsevier Masson SAS. Source

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