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...
- 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...