Beckwith–Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a “de novo” pericentric inversion of chromosome Y-Reference-Cited by-同舟云学术

Beckwith–Wiedemann syndrome due to 11p15.5 paternal duplication associated with Klinefelter syndrome and a “de novo” pericentric inversion of chromosome Y

Published:2005-04 Issue:2 Volume:48 Page:159-166
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Delicado Alicia,Lapunzina Pablo,Palomares María,Molina Maria Antonia,Galán Enrique,Pajares Isidora López

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference15 articles.

1. Beckwith–Wiedemann syndrome tumorigenesis and imprinting;Junien;Curr. Opin. Genet. Dev.,1992

2. Frequency of Wiedemann–Beckwith syndrome in Germany; rate of hemihyperplasia and tumours in affected children;Wiedemann;Eur. J. Pediatr.,1997

3. Molecular genetics of Beckwith–Wiedemann syndrome;Li;Am. J. Med. Genet.,1998

4. Trisomy 11p15 and Beckwith–Wiedemann syndrome. A report of two cases;Turleau;Hum. Genet.,1984

5. Abnormality of chromosome 11 in patients with features of Beckwith–Wiedemann syndrome;Waziri;J. Pediatr.,1983

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1. Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes;Genes;2022-02-23

2. Clinical and Cytogenomic Characterization of De Novo 11p14.3-p15.5 Duplication Associated with 18q23 Deletion in an Egyptian Female Infant;Journal of Pediatric Genetics;2020-04-21

3. Unbalanced segregation of a paternal t(9;11)(p24.3;p15.4) translocation causing familial Beckwith-Wiedemann syndrome: a case report;BMC Medical Genomics;2019-06-07

4. Urological Findings in Beckwith-Wiedemann Syndrome With Chromosomal Duplications of 11p15.5: Evaluation and Management;Urology;2017-02

5. Is one diagnosis the whole story? patients with double diagnoses;American Journal of Medical Genetics Part A;2016-06-08