Case Report of International Journal of Case Reports
Neonate with 10q Interstitial Deletion within the Long Arm of Chromosome 10- A Case Report and Literature Review
Raja Nandyal1, Sara Hagan2 and Tavleen Sandhu3
1department of Pediatrics (Neonatology section), Oklahoma University Health Sciences Center, Oklahoma, USA;
2OU Medicine, Oklahoma University Health Sciences Center, Oklahoma, USA;
3department of Pediatrics (Neonatology section), Oklahoma University Health Sciences Center, Oklahoma, USA.
Introduction: Partial deletion of distal chromosome 10q was first reported in 1978 by Lewandowski1. Interstitial deletions within bands 10q25e10q26.3 are rare. Seven such cases were reported so far2. Patient Information: A term AGA male newborn was delivered at our perinatal center with antenatal diagnosis of unbalanced translocation of chromosomes 10 and 12, and fetal cleft lip and cleft palate. Blood was sent for chromosome analysis using GTG banding method. Baby had facial dysmorphism, left cleft lip, bilateral cleft of soft and hard palate, intact nasal septum, normal ears and micrognathus. Abdominal ultrasound showed absence of right testis in inguinal canal and abdomen (anorchia). Hospital course was unremarkable except for feeding problems requiring feeding team, plastic surgery planned at 2- 3 months of age, and taping of the cleft lip. He went home on day 7. Conclusion: Here, we reported an extremely rare case of a male newborn with an interstitial deletion within the long arm of chromosome 10 between bands 10q25.1 and 10q26.1, with dysmorphic features, along with a few unreported associations (atypical Pierre-Robin sequence and bilateral dorsal horn ventriculomegaly). We added a comprehensive review of literature on chromosome 10q deletions to the case report. We also listed clinical implications of 71 RefSeq and OMIM genes noted in that ~13.3Mb 10q deletion in the Appendix. Earlier detection of both common and rare chromosomal- genetic abnormalities might prepare the family and health care team to plan optimal care to the mother, and baby.
Keywords: Chromosome 10q deletions, Interstitial deletions, Cleft lip and Cleft palate anomalies
How to cite this article:
Raja Nandyal, Sara Hagan and Tavleen Sandhu. Neonate with 10q Interstitial Deletion within the Long Arm of Chromosome 10- A Case Report and Literature Review. International Journal of Case Reports, 2019 4:106. DOI: 10.28933/ijcr-2019-11-2905
1. Lewandowski RC, Jr., Kukolich MK, Sears, JW, Mankinen CB. 1978. Partial deletion 10q. Hum. Genet. 42:339-343.
2. Chang YT, Chou IC, Wang CH, Chin ZN, Kuo HT, Lin CC, Tsai, CH, Tsai FJ. 2013. Chromosome 10q deletion del (10)(q26.1q26.3) is associated with cataract. Pediatr Neonatol. 54(2):132-136.
3. Lin S, Zhou Y, Fang Q, Wu J, Zhang Z, Ji Y, Luo y. 2016. Chromosome 10q26 Deletion Syndrome: Two New Cases and a Review of the Literature. Molecular Medicine Reports, vol. 14, no. 6, pp. 5134–5140.
4. Online Mendelian Inheritance in Man (OMIM no 609625). CHROMOSOME 10q26 DELETION SYNDROME. https://omim.org/entry/609625
5. Wulfsberg EA, Weaver RP, Cunniff CM, Jones MC, Jones KL. 1989. Chromosome 10qter deletion syndrome: A review and report of three new cases. Am J Med Genet. 32:364–367.
6. Irving M, Hanson H, Turnpenny P, Brewer C, Ogilvie CM, Davies A, Berg J. 2003. Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases. Am J Med Genet A 123A: 153–163.
7. Tosur M, Geary CA, Matalon R, Radhakrishnan RS, Swischuk LE, Tarry WF, Dong J, Lee PD. 2015 Am J Med Genet A. 167A(4):791-796.
8. Choucair N, Abou Ghoch J, Fawaz A, Mégarbané A, Chouery E. 2015. 10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies. Am J Med Genet A. 167A (11):2707-2713.
9. Faria AC, Rabbi-Bortolini E, Reboucas MRGO, Thiago Pereira ALADS, Tonini Frasson MG, Atique R, Lourenco NCV, Rosenberg C, Kobayashi GS, Passos-Bueno MR, Errera FIV. 2016. Craniosynostosis in 10q26 deletion patients: A consequence of brain underdevelopment or altered suture biology? Am J Med Genet A. 170A(2):403-409.
10. Scigliano S, Grégoire MJ, M Schmitt M, Jonveaux PH, LeHeup B. 2004. Terminal Deletion of the Long Arm of Chromosome 10. Clinical Genetics, vol. 65, no. 4, 294–298.
11. Gunnarsson C, Graffmann B, Jonasson J. 2009. Chromosome r(10)(p15.3q26.12) in a newborn child: case report. Mol Cytogenet. 2:25. 1-6.
12. Ramos M, Wilkens A, Krantz ID, Wu Y. 2016. Hearing loss, coloboma and left ventricular enlargement in a boy with an interstitial 10q26 deletion. Am J Med Genet C Semin Med Genet. 172(2):109-116.
13. Yatsenko SA, Kruer MC, Bader PI, Corzo D, Schuette J, Keegan CE, Nowakowska B, Peacock S, Cai WW, Peiffer DA, Gunderson KL, Ou Z, Chinault AC, Cheung SW. 2009. Identification of critical regions for clinical features of distal 10q deletion syndrome. Clin Genet. 76(1):54-62.
14. Riley DS, Barber MS, Kienle GS, Aronson JK, von Schoen-Angerer T, Tugwell P, Kiene H, Helfand M, Altman DG, Sox H, Werthmann PG, Moher D, Rison RA, Shamseer L, Koch CA, Sun GH, Hanaway P, Sudak NL, Kaszkin-Bettag M, Carpenter JE, Gagnier JJ. 2017. CARE guidelines for case reports: explanation and elaboration document. J Clin Epidemiol. 89:218-235
15. Chen C-P, Chern S-R, Wang T-H, Hsueh DW, Lee CC, Town DD, Wang W, Ko TM. Prenatal diagnosis and molecular cytogenetic analysis of partial monosomy 10q (10q25.3 → qter) and partial trisomy 18q (18q23 →qter) in a fetus associated with cystic hygroma and ambiguous genitalia. 2005. Prenat Diagn. 25(6):492-496.
16. Kehrer-Sawatzki H, Daumiller E, Jutta Muller-Navia J, Kendziorra H, Rosier E, dunois G, Barbi G. 2005. Interstitial deletion del(10)(q25.2q25.3 ∼ 26.11)—case report and review of the literature. Prenat Diagn. 25: 954-959.
17. Ogata T, Muroya K, Sasagawa I, Kosho T, Wakui K, Sakazume S, Ito K, Matsuo N, Ohashi H, Nagai T. 2000. Genetic evidence for a novel gene(s) involved in urogenital development on 10q26. Kidney Int. 58(6):2281-2290.
18. Vera-Carbonell A, López-González V, Bafalliu JA, Ballesta-Martínez MJ, Fernández A, Guillén-Navarro E, López-Expósito I. 2015. Clinical comparison of 10q26 overlapping deletions: delineating the critical region for urogenital anomalies. Am J Med Genet A. 167A(4):786-90.
19. Tanteles GA, Nikolaou E, Christou Y, Alexandrou A. 2015. Evangelidou P, Christophidou-Anastasiadou V, Sismani C, Savvas S. Papacostas SS. 2015. Case Report- Mild Phenotype in a Patient with a De Novo 6.3 Mb Distal Deletion at 10q26.2q26.3. Case Rep Genet. 2015:242891.
20. McCandless SE, Schwartz S, Morrison S, Garlapati K, Robin NH. 2000. Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome. Am J Med Genet. 95(2):93-98.
21. Rasheed BK, McLendon RE, Friedman HS, Friedman AH, Fuchs HE, Bigner DD, Bigner SH. 1995. Chromosome 10 deletion mapping in human gliomas: a common deletion region in 10q25. Oncogene. 10(11):2243-6.
22. Maier D, Zhang Z, Taylor E, Hamou MF, Gratzl O, Van Meir EG, Scott RJ, Merlo A. 1998. Somatic deletion mapping on chromosome 10 and sequence analysis of PTEN/MMAC1 point to the 10q25-26 region as the primary target in low-grade and high-grade gliomas. Oncogene. 25;16(25):3331-3335.
23. Fults D, Pedone C. 1993. Deletion mapping of the long arm of chromosome 10 in glioblastoma Multiforme. Genes Chrom Cancer 7:173-177.
24. Baldinu P, Cossu A, Manca A, Satta MP, Sini MC, Rozzo C, Dessole S, Cherchi P, Gianfrancesco F, Pintus A, Carboni A, Deiana A, Tanda F, Palmieri G. 2004. Identification of a novel candidate gene, CASC2, in a region of common allelic loss at chromosome 10q26 in human endometrial cancer. Hum Mutat. 23(4):318-326.
25. Makkar A, McCoy Hallford G, Szyld E. 2019. A Hybrid Form of Telemedicine: A Unique Way to Extend Care Service to Neonates in Medically Underserved Areas. Telemedicine and e-Health 24(9)
This work and its PDF file(s) are licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.