Mosaic 13q13.2-ter deletion restricted to tissues of ectodermal and mesodermal origins

Clinical Dysmorphology

Volumn 15, Issue 1, 2006, Pages 13-18

  Melis, Daniela ^a   Pia Sperandeo, Maria ^b   Perone, Lucia ^a   Staiano, Annamaria ^a   Andria, Generoso ^a   Sebastio, Gianfranco ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b DULBECCO TELETHON INSTITUTE   (Italy)

Author keywords

13q syndrome; Mosaicism

Indexed keywords

ANILINE DERIVATIVE; GLUE; TERATOGENIC AGENT; ANILINE; CARCINOGEN;

ARTICLE; BRAIN MALFORMATION; CASE REPORT; CEREBELLUM VERMIS; CHILD; CHORIORETINAL COLOBOMA; CHROMOSOME 13Q; CHROMOSOME ARM; CHROMOSOME DELETION; CLINICAL FEATURE; COLOBOMA; CORPUS CALLOSUM AGENESIS; ECHOOCULOGRAPHY; ECTODERM; EYE DISEASE; FEMALE; HAIR CELL; HUMAN; KARYOTYPING; MESODERM; MICROCEPHALY; MOLECULAR GENETICS; PERIPHERAL LYMPHOCYTE; PREGNANCY; PRIORITY JOURNAL; RETINA PIGMENT DEGENERATION; SEX CHROMOSOME MOSAICISM; SKELETON MALFORMATION; SKIN FIBROBLAST; TERATOLOGY; URINARY TRACT; CHEMICALLY INDUCED DISORDER; CHROMOSOME 13; ENVIRONMENTAL EXPOSURE; FIBROBLAST; FOLLOW UP; GENETICS; HAIR; INFANT; INTRAUTERINE GROWTH RETARDATION; MOSAICISM; MULTIPLE MALFORMATION SYNDROME; OCCUPATIONAL EXPOSURE; PATHOLOGY; SKIN;

ABNORMALITIES, MULTIPLE; ANILINE COMPOUNDS; CARCINOGENS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; COLOBOMA; FEMALE; FETAL GROWTH RETARDATION; FIBROBLASTS; FOLLOW-UP STUDIES; HAIR; HUMANS; INFANT; MATERNAL EXPOSURE; MOSAICISM; OCCUPATIONAL EXPOSURE; SKIN;

EID: 33646379143     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mcd.0000181602.70629.67     Document Type: Article

References (28)

1. Bamforth JS, Lin CC (1997). DK Phocomelia Phenotype (von Voss-Cherstvoy Syndrome) caused by somatic mosaicism for del(13q). Am J Med Genet 73:408-411.
2. Bauchinger M, Kulka U, Schmid E (1989). Cytogenetic effects of 3,4-dichloroaniline in human lymphocytes and V79 Chinese hamster cells. Mutat Res 226:197-202.
3. Bomhard EM (2003). High-dose clastogenic activity of aniline in the rat bone marrow and its relationship to the carcinogenicity in the spleen of rats. Arch Toxicol 77:291-297.
4. Bottani A, Xie Y, Binkert F, Schinzel A (1991). A case of Hirschsprung disease with chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of a disease locus. Hum Genet 87:748-750.
5. Brown S, Gersen S, Anyane-Yeboa K, Warburton D (1993). Preliminary definition of a critical region of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature. Am J Med Genet 45:52-59.
6. Brown S, Russo J, Chitayat D, Warburton D (1995). The 13q- syndrome: the molecular definition of a critical deletion region in band 13q32. Am J Hum Genet 57:859-866.
7. Bunin GR, Emanuel BS, Meadows AT, Buckley JD, Woods WG, Hammond GD (1989). Frequency of 13q abnormalities among 203 patients with retinoblastoma. J Natl Cancer Inst 81:370-374.
8. Carmichael A, Addy DP, Shortland-Webb WR, Cameron AH, Davies CS (1977). 13q- Syndrome family study. Arch Dis Child 52:972-974.
9. Cuschieri A, Vassallo P, Sceres J (1977). Partial deletion of long arm of chromosome no. 13. Hum Gen 36:341-344.
10. Dudin G, Nasr A, Traboulsi E, Khouri F, De Kaloustian VM (1984). Hereditary retinoblastoma and 13q- mosaicism. Cytogenet Cell Genet 38:235-237.
11. Gentile M, Buonadonna AL, Cariola F, Fiorente P, Valenzano MC, Guanti G (1999). Molecular and cytogenetic characterisation of an unusual case of partial trisomy/partial monosomy 13 mosaicism: 46,XX,r(13)(p11q14)/46,XX,der(13) t(13;13)(q10;q14). J Med Genet 36:77-82.
12. Juberg RC, Mowrey PN (1984). Interstitial del(13q) associated with blindness and mental retardation. Am J Med Genet 17:609-613.
13. Lorentz CP, Jalal SM, Thompson DM, Babovic-Vuksanovic DB (2002). Mosaic r(13) resulting in large deletion of chromosome 13 in a newborn female with multiple congenital anomalies. Am J Med Genet 111:61-67.
14. Luo J, Balkin N, Stewart JF, Sarwark JF, Charrow J, Nye JS (2000). Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34. Am J Med Genet 91:227-230.
15. Meyrat BJ, Laurini RN (2003). Plasticity of the enteric nervous system in patients with intestinal neuronal dysplasia associated with Hirschsprung's disease: a report of three patients. Pediatr Surg Int 19:715-720.
16. Meyrat BJ, Lesbros Y, Laurini RN (2001). Assessment of the colon innervation with serial biopsies above the aganglionic zone before the pull-through procedure in Hirschsprung's disease. Pediatr Surg Int 17:129-135.
17. Niikawa N, Tamura T, Tomiyasu F, Kajii T (1980). 13q-/r(13) mosaicism. J Med Genet 17:316-319.
18. Nishikawa A, Mitomori T, Matsuura A, Inoue A, Mori H, Takahashi M (1985). A 13q-syndrome with extensive intestinal atresia. Acta Pediatr Scand 74;305-308.
19. Ribeiro MC, Andrade JA, Erwenne CM, Brunoni D (1988). Bilateral retinoblastoma associated with 13q- mosaicism. Possible manifestation of a germinal mutation. Cancer Genet Cytogenet 32:169-175.
20. Salassidis K, Bauchinger M (1990). Mitotic spindle damage induced by 3,4-dichloroaniline in V79 Chinese hamster cells examined by differential staining of the spindle apparatus and chromosomes. Mutagenesis 5:367-370.
21. Shanske A, Ferreira JC, Leonard JC, Fuller P, Marion RW (2001). Hirshsprung disease in an infant with a contiguous gene syndrome of chromosome 13. Am J Med Genet 102:231-236.
22. Srivastava S, Sinha R, Roy D (2004). Toxicological effects of malachite green. Aquat Toxicol 66:319-329.
23. Taningher M, Pasquini R, Bonatti S (1993). Genotoxicity analysis of N,N-dimethylaniline and N,N-dimethyl-p-toluidine. Environ Mol Mutagen 21:349-356.
24. Telfer MA, Clark CE, Casey PA, Cowel HR, Stroud HH (1980). Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32-13qter. Clin Gen 17:428-432.
25. Tranebjaerg L, Nielsen KB, Tommerup N, Warburg M, Mikkelsen M (1988). Interstitial deletion 13q: further delineation of the syndrome by clinical and high-resolution chromosome analysis of five patients. Am J Med Genet 29:739-753.
26. Van Esch H, Aerssens P, Fryns JP (2005). The importance of excluding 13q deletion mosaicism in the diagnosis of retinoblastoma associated with dysmorphic features. Genet Couns 16:91-93.
27. Walsh LE, Vance GH, Weaver DD (2001). Distal 13q deletion syndrome and the VACTEREL association: case report, literature review, and possible implications. Am J Med Genet 98:137-144.
28. Widschwendter A, Riha K, Duba HC, Kreczy A, Marth C, Schwarzler P (2002). Prenatal diagnosis of de novo mosaic deletion 13q associated with multiple abnormalities. Ultrasound Obstet Gynecol 19:396-399.