Marie France Portnoi
- 22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromesMarie France Portnoi
Laboratoire de Cytogenetique, Hopital Saint Antoine AP HP, Paris, France
Am J Med Genet A 137:47-51. 2005..These findings illustrate the importance of scanning interphase nuclei when performing FISH analysis for any of the genomic disorders...
- Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patientsMarie France Portnoi
Cytogenetics Laboratory, AP HP, Saint Antoine s Hospital, Pierre and Marie Curie University, Paris, France
Clin Dysmorphol 16:247-52. 2007..22. The boy and his mother had a smaller deletion (8 Mb), with a breakpoint in 18p11.23. These findings suggest that the distal region on 18p is involved in the main clinical features, and GH deficiency, in 18p deletions...
- A new 17p13.3 microduplication including the PAFAH1B1 and YWHAE genes resulting from an unbalanced X;17 translocationCapucine Hyon
Service de Génétique et Embryologie médicales, Hopital Armand Trousseau, APHP, UPMC, Paris, France
Eur J Med Genet 54:287-91. 2011..3 microduplication syndrome...
- Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pterNicolas Gruchy
Laboratoire de Cytogenetique, AP HP, Hopital Saint Antoine, Universite Pierre et Marie Curie, Paris, France
Am J Med Genet A 143:2417-22. 2007..The phenotypic effects of the terminal deletion of 2p in addition to the trisomy are discussed. This is the third patient presenting with a severe clinical phenotype and a de novo inv dup del (2p)...
- Mechanism of intrachromosomal triplications 15q11-q13: a new clinical reportFrancois Vialard
Laboratoire de Cytogenetique, CHU de Rouen, Rouen, France
Am J Med Genet A 118:229-34. 2003..We present several arguments for the mechanism involving two U-type exchanges occurring simultaneously at the pachytene stage of meiosis...
- Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletionIsabelle Rouillon
Service d Otorhinolaryngologie et de Chirurgie Cervico Faciale, Hopital d Enfants Armand Trousseau, APHP and UPMC Univ Paris 6, 26 Avenue Arnold Netter, 75571 Paris Cedex 12, France
Arch Otolaryngol Head Neck Surg 135:652-6. 2009..To evaluate the results of velopharyngoplasty for velopharyngeal insufficiency (VPI) in relation to 22q11 deletion or nonsyndromic VPI...
- Discontinuous gradient centrifugation (DGC) decreases the proportion of chromosomally unbalanced spermatozoa in chromosomal rearrangement carriersAlexandre Rouen
Medical Genetics and Embryology Department, AP HP, Armand Trousseau Hospital, 28 avenue du Dr Arnold Netter, Paris, France
Hum Reprod 28:2003-9. 2013..Can the proportion of unbalanced spermatozoa in chromosomal rearrangement carriers be decreased through the use of discontinuous gradient centrifugation (DGC)?..
- Whole-arm translocations between chromosome 1 and acrocentric G chromosomes are associated with a poor prognosis for spermatogenesis: two new cases and review of the literatureFrancois Vialard
Laboratoire de Cytogenetique, Hopital Saint Antoine, Paris, France
Fertil Steril 86:1001.e1-5. 2006..To analyze unusual translocations involving a chromosome 1 whole arm and an acrocentric G chromosome p arm found in two men with azoospermia...
- Myoclonus-dystonia due to maternal uniparental disomyEmilie Guettard
Service de Neurologie, Hopital Saint Antoine, AP HP, Paris, France
Arch Neurol 65:1380-5. 2008..Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7...
- Beckwith-Wiedemann-like macroglossia and 18q23 haploinsufficiencyFrederic Lirussi
Service de Biochime et Biologie Moléculaire, Hopital d Enfants Armand Trousseau, AP HP, Paris, France
Am J Med Genet A 143:2796-803. 2007..5. Because this minimal region of haplo-insufficiency falls into a common region of deletion in 18q- syndrome, we inferred that this macroglossia condition would follow a recessive pattern of inheritance...
- Atypical deletion of 22q11.2: detection using the FISH TBX1 probe and molecular characterization with high-density SNP arraysMarie Paule Beaujard
Laboratoire de Cytogenetique, Institut de Puericulture, Paris, France
Eur J Med Genet 52:321-7. 2009..2. We conclude that FISH with the TBX1 probe is an accurate diagnostic tool for 22q11.2 DS, with a higher sensitivity than FISH using standard probes, detecting all but the rarest deletions, greatly reducing the false negative rate...