Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier-Reference-Cited by-同舟云学术

Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

Published:2014-10-29 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Delicado Alicia,Fernández Luis,de Torres María Luisa,Nevado Julián,García-Santiago Fe Amalia,Rodríguez Roberto,Mansilla Elena,Palomares María,Santos-Simarro Fernando,Vallespín Elena,Mori María Ángeles,Lapunzina Pablo

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1186/s12881-014-0116-3/fulltext.html

Reference16 articles.

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2. Alkalay AA, Guo T, Montagna C, Digilio MC, Dallapiccola B, Marino B, Morrow B: Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome. Am J Med Genet A. 2011, 155A (3): 548-554. 10.1002/ajmg.a.33861.

3. Fernández L, Nevado J, De Torres ML, Mansilla E, Vallespín E, García-Miñaúr S, Palomo R, Deir's L, Cabrera M, Galo ED, Lapunzina P, Delicado A: Additional case of an uncommon 22q11.2 reciprocal rearrangement in a phenotypically normal mother of children with 22q11.2 deletion and 22q11.2 duplication syndromes. Am J Med Genet A. 2012, 158A (11): 2963-2968. 10.1002/ajmg.a.35595.

4. Nowakowska BA, de Leeuw N, Ruivenkamp CA, Sikkema-Raddatz B, Crolla JA, Thoelen R, Koopmans M, den Hollander N, van Haeringen A, van der Kevie-Kersemaekers AM, Pfundt R, Mieloo H, van Essen T, de Vries BB, Green A, Reardon W, Fryns JP, Vermeesch JR: Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. Eur J Hum Genet. 2012, 20 (2): 166-170. 10.1038/ejhg.2011.157.

5. Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR: Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant. J Med Genet. 2009, 46 (4): 223-232. 10.1136/jmg.2007.055202.

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1. Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients;European Journal of Medical Genetics;2023-04

2. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations;Journal of Medical Genetics;2018-10-04

3. Chromosome 16p13.11 Microdeletion Syndrome in a Newborn: A Case Study;Neonatal Network;2018-09