Marie France Portnoi
- Familial Turner syndrome with an X;Y translocation mosaicism: implications for genetic counselingMarie France Portnoi
Service de Génétique et Embryologie médicales, Hopital Armand Trousseau, APHP, UPMC, France
Eur J Med Genet 55:635-40. 2012....
- Microduplication 22q11.2: a new chromosomal syndromeMarie France Portnoi
Service de Génétique et Embryologie médicales, Hopital Armand Trousseau, 26 rue du Dr Arnold Netter, AP HP, 75012 Paris, France
Eur J Med Genet 52:88-93. 2009..2 disorder...
- 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...
- 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...
- 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)?..
- Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicismJonathan Levy
Service de génétique et d embryologie médicales, Hopital Armand Trousseau, APHP, UPMC, 75012 Paris, France
Case Rep Genet 2013:592702. 2013..A severe clinical syndrome can be defined, comprising ear abnormalities, cleft lip/palate, malformations of eyes, heart, and kidneys, and deformity of hands and feet and most often associated with death neonatally or in early infancy...
- 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)...
- 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...