Distal trisomy 10q24 due to maternal 10;22 translocation, third case in the same family

• Authors: Pelin Tasdemir , Ayse Zamani , Sennur Demirel , Aynur Acar
• Languages of publication: EN

Abstracts

EN

Distal trisomy 10q is a well delineated but a rare syndrome with characteristic phenotypic features. We present clinical and cytogenetic data on a 7 day-old girl with distal 10q trisomy (10q24→qter), due to maternal t(10;22) reciprocal translocation. Her karyotype showed an unbalanced translocation between chromosomes 10 and 22, resulting in trisomy of the distal part of the long arm of chromosome 10q24.

Keywords

EN

Distal trisomy 10q; Facial dysmorphism; Congenital malformations; Familial reciprocal translocations

• Publisher: De Gruyter Open
• Journal: Open Medicine
• Year: 2012
• Volume: 7
• Issue: 3
• Pages: 366-370

Dates

published

1 - 6 - 2012

online

29 - 3 - 2012

Contributors

author

Pelin Tasdemir

• Meram Medical Faculty, Blood Center, Selcuk University, 42090, Meram, Konya, Turkey

author

Ayse Zamani

• Meram Medical Faculty, Department of Medical Genetics, Selcuk University, 42090, Meram, Konya, Turkey

author

Sennur Demirel

• Meram Medical Faculty, Department of Medical Biology, Selcuk University, 42090, Meram, Konya, Turkey

author

Aynur Acar

• Meram Medical Faculty, Department of Medical Genetics, Selcuk University, 42090, Meram, Konya, Turkey

References

• [1] Lurie IW., Distal trisomy 10q and limb defects, Ann Genet, 2002, 45, 127–129 http://dx.doi.org/10.1016/S0003-3995(02)01131-0[Crossref]
• [2] Schinzel A. Catalogue of unbalanced chromosomal aberrations in man, Berlin: de Grutyer, 1983, 407–409
• [3] Yunis J.J., Sanches O., A new syndrome resulting from partial trisomy for the distal third of the long arm of chromosome 10, J Pediatr, 1974, 84, 567–570 http://dx.doi.org/10.1016/S0022-3476(74)80683-9[Crossref]
• [4] Klep-de Pater J.M., Bijlsma J.B., De Franche H.F., Leschot N.J., Duijn-Dam-Van Den Berge M., Van Hemel J.O., Partial trisomy 10q. A recognizable syndrome, Hum Genet, 1979, 46, 29–40 http://dx.doi.org/10.1007/BF00278899[Crossref]
• [5] Taysi K.. Yang V., Monaghan N., Beraha N., Partial trisomy 10q in three unrelated patients, Ann Genet, 1983, 26, 79–85
• [6] Fryns J.P. Chromosome 10, trisomy 10q2, Birth Defects Encyclopedia, M.L Buyse(ed.). Cambridge, Blackwell Scientific Publications, 1990, 359–360
• [7] Lyons Jones K., Recognizable patterns of human malformation, 4th ed., Smith D.W.(ed.)., W.B. Saunders Company, 1988, 50–51
• [8] Han J.Y, Kim K.H, Jun H.J, Je G.H, Glotzbach C.D, Shaffer L.G., Partial Trisomy of Chromosome 10(q22–q24) Due to Maternal Insertional Translocation (15;10), Am J Med Genet, 2004,131A, 190–193 http://dx.doi.org/10.1002/ajmg.a.30307[Crossref]
• [9] Acar A., Demirel S., Acar H., Cora T., Karaslan S., Partial Trisomy 10q24 due to familial translocation t(10;22)(q24-p12), J. Health Sci, 1994, 5–6, 46–51
• [10] Varda N.M., Vokač N.K., Kanič Z., Bračič K., Zagradišnic B., Gregorič A., Early renal insufficiency in a neonate with de novo partial trisomy of chromosome 10q, Am J Med Genet, 2003, 123A, 164–168 http://dx.doi.org/10.1002/ajmg.a.20295[Crossref]
• [11] Gray C.I, Fallowfield J., Ford S., Nobile C., Volpi E.V., Spurr N.K., An Integrated Physical and Genetic Map Spanning Chromosome Band 10q24, Genomics, 1997, 43, 85–88 http://dx.doi.org/10.1006/geno.1997.4809[Crossref]
• [12] Garcia-Heras J., Martin J.A, Witchel S.F., Scacheri P. De novo der (X)t(X;10)(q26;21) with features of distal trisomy 10q: case report of paternal origin identified by late replication with BrdU and the human androgen receptor assay (HAR), J Med Genet, 1997, 34, 242–245 http://dx.doi.org/10.1136/jmg.34.3.242[Crossref]
• [13] Davies J., Jaffe A., Bush A., Distal 10q trisomy syndrome with unusual cardiac and pulmonary anomalies. J Med Genet,1998, 35:72–74 http://dx.doi.org/10.1136/jmg.35.1.72[Crossref]
• [14] Briscioli V., Floridia G., Rossi E. et al., Trisomy 10qter confirmed by in situ hybridisation, J Med Genet, 1993, 30: 601–603 http://dx.doi.org/10.1136/jmg.30.7.601[Crossref]
• [15] Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, et al.(2006). Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478–489 http://dx.doi.org/10.1136/jmg.2005.036350[Crossref]
• [16] Fuenmayor M.H., Zackai E.H., Mellman W.J., Aronson M., Familial Partial Trisomy of the Long Arm of Chromosome 10 (q24–26), Pediatrics, 1975, 56,756–761
• [17] Hou J.W., Chromosomal 10q26 Trisomy Resulting From Paternal t(9;10)(pter;q26.1). J. Formos. Med. Assoc., 2003,102, 887–892

Identifiers

DOI

10.2478/s11536-011-0162-6