- Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritanceGeraldine Viot
Department of Genetics, Hopital Necker Enfants Malades, Paris, France
Am J Med Genet 107:1-4. 2002..This finding, in combination with a sex ratio in favor of females and an increased morbidity and mortality in males, is highly suggestive of X-linked dominant inheritance...
- A de novo 10p11.23-p12.1 deletion recapitulates the phenotype observed in WAC mutations and strengthens the role of WAC in intellectual disability and behavior disordersFatma Abdelhedi
Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France
Am J Med Genet A 170:1912-7. 2016..Our data also led us to propose a clinical pathway for patients with this recognizable genetic syndrome depending on the facial dysmorphisms. © 2016 Wiley Periodicals, Inc. ..
- Neonatal Silver-Russell syndrome with maternal uniparental heterodisomy, trisomy 7 mosaicism, and dysplasia of the cerebellumFatma Abdelhedi
From the Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France
Am J Clin Pathol 142:248-53. 2014..We report here the unusual association of Silver-Russell syndrome (SRS) and cerebellar dysplasia with trisomy 7 mosaicism and maternal uniparental disomy of chromosome 7 [UPD(7)m]...
- Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndromeDamien Sanlaville
Département de génétique, Hopital Necker Enfants Malades, Paris, France
Eur J Hum Genet 13:690-3. 2005..They were tested for the presence of an 8p duplication using the same clones as described by Milunsky and Huang. Our results do not confirm the previously described association between KS and an 8p22-8p23.1 duplication...
- First reported case of intrachromosomal cryptic inv dup del Xp in a boy with developmental retardationCeline Dupont
AP HP, Hopital Cochin, Service Histologie Embryologie Cytogénétique, Universite Paris Descartes, Faculte de Medecine, Unité INSERM U709, Paris, France
Am J Med Genet A 143:1236-43. 2007..This case highlights the importance of clinically driven FISH investigations in order to uncover cryptic micro-rearrangements...
- Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. OnlineRana Khaddour
INSERM U 781, Hopital Necker Enfants Malades, Universite Rene Descartes, Paris, France
Hum Mutat 28:523-4. 2007..4050 years) ago. We also identified a common MKS3 splice-site mutation, c.1575+1G>A, in five Pakistani sibships of three unrelated families of Mirpuri origin, with an estimated age-of-mutation of 5 generations (125 years)...