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...
- 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...
- 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...
- 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...