Display options
Cite
Strong A, Callahan KP, Guo R, et al. X-Autosome translocations: X-inactivation and effect on phenotype. Clin Dysmorphol. 2021;30(4):186-188doi: 10.1097/MCD.0000000000000381.
Strong, A., Callahan, K. P., Guo, R., Ron, H., & Zackai, E. H. (2021). X-Autosome translocations: X-inactivation and effect on phenotype. Clinical dysmorphology, 30(4), 186-188. https://doi.org/10.1097/MCD.0000000000000381
Strong, Alanna, et al. "X-Autosome translocations: X-inactivation and effect on phenotype." Clinical dysmorphology vol. 30,4 (2021): 186-188. doi: https://doi.org/10.1097/MCD.0000000000000381
Strong A, Callahan KP, Guo R, Ron H, Zackai EH. X-Autosome translocations: X-inactivation and effect on phenotype. Clin Dysmorphol. 2021 Oct 01;30(4):186-188. doi: 10.1097/MCD.0000000000000381. PMID: 34148988.
Copy Download .nbib Format: NLM
Share it on

Clin Dysmorphol. 2021 Oct 01;30(4):186-188. doi: 10.1097/MCD.0000000000000381.

X-Autosome translocations: X-inactivation and effect on phenotype.

Clinical dysmorphology

Alanna Strong, Katharine Press Callahan, Rose Guo, Hayley Ron, Elaine H Zackai

Affiliations

  1. Division of Human Genetics.
  2. Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, USA.

PMID: 34148988 DOI: 10.1097/MCD.0000000000000381

[No abstract available.]

References

  1. Davidsson J, Collin A, Björkhem G, Soller M. Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay. BMC Med Genet 2008; 9:2. - PubMed
  2. Frost M, Tencerova M, Andreasen CM, Andersen TL, Ejersted C, Svaneby D, et al. Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: a case-control study. Bone 2019; 121:243–254. - PubMed
  3. Gartler SM, Andina RJ. Mammalian X-chromosome inactivation. Adv Hum Genet 1976; 7:99–140. - PubMed
  4. Gläser B, Shirneshan K, Bink K, Wirth J, Kehrer-Sawatzki H, Bartz U, et al. Molecular cytogenetic analysis of a de novo balanced X;autosome translocation: evidence for predominant inactivation of the derivative X chromosome in a girl with multiple malformations. Am J Med Genet A 2004; 126A:229–236. - PubMed
  5. Heksch R, Kamboj M, Anglin K, Obrynba K. Review of Prader-Willi syndrome: the endocrine approach. Transl Pediatr 2017; 6:274–285. - PubMed
  6. Herva R, Vuorinen O. Congenital heart disease with del(15q) mosaicism. Clin Genet 1980; 17:26–28. - PubMed
  7. Jaillard S, Loget P, Lucas J, Dubourg C, Le Bouar G, Demurger F, et al. Terminal 6.9 Mb deletion of chromosome 15q, associated with a structurally abnormal X chromosome in a patient with congenital diaphragmatic hernia and heart defect. Eur J Med Genet 2011; 54:186–188. - PubMed
  8. Mattei MG, Mattei JF, Ayme S, Giraud F. X-autosome translocations: cytogenetic characteristics and their consequences. Hum Genet 1982; 61:295–309. - PubMed
  9. Mori MA, Rodriguez L, Pinel I, Casas JM, Diaz de Bustamante A, Martinez-Frias ML. Partial monosomy 15q due to de novo t(15;22)(q15;p11). Ann Genet 1987; 30:246–248. - PubMed
  10. Roberts CM, Angus JE, Leach IH, McDermott EM, Walker DA, Ravenscroft JC. A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). Eur J Pediatr 2010; 169:1403–1407. - PubMed
  11. Sakazume S, Ohashi H, Sasaki Y, Harada N, Nakanishi K, Sato H, et al. Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation. Hum Genet 2012; 131:121–130. - PubMed
  12. Solmaz AE, Durmaz B, Braekeleer MD, Cogulu O, Ozkinay F. A further patient of pure 15q deletion: clinical and molecular cytogenetic findings. Genet Couns 2016; 27:1–8. - PubMed

Publication Types