Ann Lab Med.  2015 Sep;35(5):557-560. 10.3343/alm.2015.35.5.557.

Phenotypic Variability of a Terminal 7q Deletion/8q Duplication in Korean Siblings

• Kwun Y
• Seo EJ
• Yoo HW
• Lee BS
• Kim KS
• Kim EA

• KMID: 2369778
• DOI: http://doi.org/10.3343/alm.2015.35.5.557

Abstract

No abstract available.

MeSH Terms

Humans
Siblings*

Figure

• 

  Fig. 1 Radiologic findings and genetic studies. (A, B) Magnetic resonance imaging (MRI) showing lipomyelomeningocele in patient 1; (C, D) MRI findings showing a pre-sacral mass in patient 2; (E, F) Array-comparative genomic hybridization analysis of patient 1 revealing (E) deletion of 7q36.1q36.3 and (F) gain of 8q24.22q24.3. (G, H) FISH. The BAC clone RP11-354K9 on 7q36.3 was labeled by SpectrumRed (Abbott Molecular, Abbot Park, IL, USA) and RP11-91F24 on 8q24.3 by SpectrumGreen (Abbott Molecular). The solid triangle and arrow indicate normal 7 and der(7)t(7;8), respectively. The hollow triangle and arrowhead indicate normal 8 and der(8)t(7;8), respectively. (G) FISH and karyogram of chromosome 7 and 8 for patient 1 showing der(7)t(7;8); (H) FISH and karyogram of chromosome 7 and 8 for the mother with t(7;8)(q36.1;q24.22).Abbreviation: Mb, megabase.

Reference

1. Weischenfeldt J, Symmons O, Spitz F, Korbel JO. Phenotypic impact of genomic structural variation: insights from and for human disease. Nat Rev Genet. 2013; 14:125–138. PMID: 23329113.

2. Xu Y, Zhang L, Shi T, Zhou Y, Cai H, Lan X, et al. Copy number variations of MICAL-L2 shaping gene expression contribute to different phenotypes of cattle. Mamm Genome. 2013; 24:508–516. PMID: 24196410.

3. Su PH, Chen JY, Chen SJ, Tsao TF, Lai YJ. Sacral dysgenesis associated with terminal deletion of chromosome 7 (q36-qter). Pediatr Neonatol. 2008; 49:189–192. PMID: 19133571.

4. Ergun MA, Balci S, Konaç E, Kan D, Menevse S, Bartsch O. Trisomy of 8q22.3 approximately q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies. Turk J Pediatr. 2004; 46:384–387. PMID: 15641279.

5. Lukusa T, Vermeesch JR, Fryns JP. De novo deletion 7q36 resulting from a distal 7q/8q translocation: phenotypic expression and comparison to the literature. Genet Couns. 2005; 16:1–15. PMID: 15844773.

6. Concolino D, Iembo MA, Moricca MT, Rapsomaniki M, Marotta R, Galesi O, et al. A de novo 8q22.2-24.3 duplication in a patient with mild phenotype. Eur J Med Genet. 2012; 55:67–70. PMID: 21971480.

7. Patel SR, Ranghini E, Dressler GR. Mechanisms of gene activation and repression by Pax proteins in the developing kidney. Pediatr Nephrol. 2014; 29:589–595. PMID: 23996452.

8. Bakrania P, Ugur Iseri SA, Wyatt AW, Bunyan DJ, Lam WW, Salt A, et al. Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies. Am J Med Genet Part A. 2010; 152A:1310–1313. PMID: 20425842.

9. Frost JM. The importance of imprinting in the human placenta. PLoS Genet. 2010; 6:e1001015. PMID: 20617174.

10. Barel O, Shalev SA, Ofir R, Cohen A, Zlotogora J, Shorer Z, et al. Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. Am J Hum Genet. 2008; 83:193–199. PMID: 18678320.