Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum-Reference-Cited by-同舟云学术

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Neonatal Silver-Russell Syndrome With Maternal Uniparental Heterodisomy, Trisomy 7 Mosaicism, and Dysplasia of the Cerebellum

Published:2014-08-01 Issue:2 Volume:142 Page:248-253
ISSN:1943-7722
Container-title:American Journal of Clinical Pathology
language:en
Short-container-title:

Author:

Abdelhedi Fatma¹,El Khattabi Laila¹,Cuisset Laurence²³,Tsatsaris Vassilis³⁴,Viot Geraldine³⁴,Druart Luc⁵,Lebbar Aziza¹³,Dupont Jean-Michel¹³

Affiliation:

1. Cytogenetics Laboratory, APHP, Cochin Hospital, Paris, France

2. Laboratory of Biochemistry and Molecular Genetics, APHP, Cochin Hospital, Paris, France

3. Paris Descartes University, Faculty of Medicine, Paris, France

4. Department of Gynecology-Obstetrics, APHP, Cochin Hospital, Paris, France

5. Cytogenetics, Biomnis Laboratory, Paris, France.

Publisher

Oxford University Press (OUP)

Subject

General Medicine

Link

http://academic.oup.com/ajcp/article-pdf/142/2/248/24998390/ajcpath142-0248.pdf

Reference24 articles.

1. Trisomy 7 CVS mosaicism: pregnancy outcome, placental and DNA analysis in 14 cases;Kalousek;Am J Med Genet,1996

2. Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16 and 22: their incidence, likely origins, and mechanisms for cell lineage compartmentalization;Wolstenholme;Prenat Diagn,1996

3. Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7;Langlois;J Med Genet,1995

4. Formation of uniparental disomy delineated from new cases and a UPD7 case after trisomy 7 rescue: presentation of own results and review of the literature;Mergenthaler;Ann Genet,2000

5. Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis;Chen;Prenat Diagn,2005

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1. Prenatal diagnosis of a trisomy 7 mosaic case: CMA, CNV-seq, karyotyping, interphase FISH, and MS-MLPA, which technique to choose?;BMC Pregnancy and Childbirth;2024-05-03

2. Genetic counseling of non-invasive prenatal testing (NIPT) trisomy 7-positive pregnancies;Taiwanese Journal of Obstetrics and Gynecology;2024-05

3. Normal karyotype and no uniparental disomy 7 at amniocentesis in a pregnancy associated with a non-invasive prenatal testing result suspicious of trisomy 7 and a favorable outcome;Taiwanese Journal of Obstetrics and Gynecology;2023-09

4. Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review;Current Pediatric Reviews;2023-05

5. Prenatal diagnosis of mosaicism for double aneuploidy of 47,XXY and trisomy 7 (48,XXY,+7) at amniocentesis in a pregnancy with a favorable outcome;Taiwanese Journal of Obstetrics and Gynecology;2021-05

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