Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array-based comparative genomic hybridization

American Journal of Medical Genetics, Part A

Volumn 155, Issue 5, 2011, Pages 1152-1156

  Filho, Aguinaldo Bonalumi ^a   Souza, Josiane ^a   Faucz, Fábio Rueda ^a   Sotomaior, Vanessa Santos ^a   Dupont, Barbara ^b   Bartel, Frank ^b   Rodriguez, Reycel ^b   Schwartz, Charles E ^b   Skinner, Cindy ^b   Alliman, Sarah ^c   Raskin, Salmo ^a,d  

^a PONTIFICAL CATHOLIC UNIVERSITY OF PARANÁ   (Brazil)

^b GREENWOOD GENETIC CENTER   (United States)

^c PerkinElmer   (United States)

^d Genetika   (Brazil)

Author keywords

Array based comparative genomic hybridization; Ectrodactyly; Eye abnormalities; Somatic gonadal mosaicism; Split hand foot malformation

Indexed keywords

GENOMIC DNA;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 10Q; COMPARATIVE GENOMIC HYBRIDIZATION; DNA DETERMINATION; DNA MICROARRAY; ECTRODACTYLY; EYE MALFORMATION; GENE DUPLICATION; GENETIC ANALYSIS; GENOME SIZE; GONADAL MOSAICISM; HETEROZYGOTE; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; MICROGNATHIA; MOSAICISM; MYOPIA; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOMATIC MOSAICISM;

ADULT; EYE ABNORMALITIES; FINGERS; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MOSAICISM; NUCLEIC ACID HYBRIDIZATION;

EID: 79954991684     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33942     Document Type: Article

References (23)

1. Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG. 2008. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol Cytogenet 1: 8.
2. Buttiens M, Fryns JP. 1987. Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect. Am J Med Genet 27: 651-660.
3. David TJ. 1972. Dominant ectrodactyly and possible germinal mosaicism. J Med Genet 9: 316-320.
4. de Mollerat XJ, Gurrieri F, Morgan CT, Sangiorgi E, Everman DB, Gaspari P, Amiel J, Bamshad MJ, Lyle R, Blouin JL, Allanson JE, Le Marec B, Wilson M, Braverman NE, Radhakrishna U, Delozier-Blanchet C, Abbott A, Elghouzzi V, Antonarakis S, Stevenson RE, Munnich A, Neri G, Schwartz CE. 2003. A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet 12: 1959-1971.
5. Dimitrov BI, de Ravel T, Van Driessche J, de Die-Smulders C, Toutain A, Vermeesch JR, Fryns JP, Devriendt K, Debeer P. 2010. Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements. J Med Genet 47: 103-111.
6. Elliott AM, Reed MH, Chudley AE, Chodirker BN, Evans JA. 2006. Clinical and epidemiological findings in patients with central ray deficiency: Split hand foot malformation (SHFM) in Manitoba, Canada. Am J Med Genet Part A 140A: 1428-1439.
7. Emery AE. 1977. A problem for genetic counselling-Split hand deformity. Clin Genet 12: 125-127.
8. Everman DB, Morgan CT, Lyle R, Laughridge ME, Bamshad MJ, Clarkson KB, Colby R, Gurrieri F, Innes AM, Roberson J, Schrander-Stumpel C, van Bokhoven H, Antonarakis SE, Schwartz CE. 2006. Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation. Am J Med Genet Part A 140A: 1375-1383.
9. Finzi S, Li Y, Mitchell TN, Farr A, Maumenee IH, Sallum JM, Sundin O. 2005. Posterior polar cataract: Genetic analysis of a large family. Ophthal Genet 26: 125-130.
10. Freire-Maia A. 1971. A recessive form of ectrodactyly, and its implications in genetic counseling. J Hered 62: 53.
11. Karsch J. 1936. Erbliche Augenmissbildung in Verbindung mit Spalthand und-fuss. Z Augenheilk 274-279.
12. Keymolen K, Van Damme-Lombaerts R, Verloes A, Fryns JP. 2000. Distal limb deficiencies, oral involvement, and renal defect: Report of a third patient and confirmation of a distinct entity. Am J Med Genet 93: 19-21.
13. Lyle R, Radhakrishna U, Blouin JL, Gagos S, Everman DB, Gehrig C, Delozier-Blanchet C, Solanki JV, Patel UC, Nath SK, Gurrieri F, Neri G, Schwartz CE, Antonarakis SE. 2006. Split-hand/split-foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region. Am J Med Genet Part A 140A: 1384-1395.
14. Majewski E, Goecke T, Meinecke P. 1996. Ectrodactyly and absence (hypoplasia) of the tibia: Are there dominant and recessive types? Am J Med Genet 63: 185-189.
15. Neugebauer H. 1962. Split hand and foot with familial occurrence. Z Orthop Ihre Grenzgeb 95: 500-506.
16. Nunes ME, Schutt G, Kapur RP, Luthardt F, Kukolich M, Byers P, Evans JP. 1995. A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. Hum Mol Genet 4: 2165-2170.
17. Pilarski RT, Pauli RM, Bresnick GH, Lebovitz RM. 1985. Karsch-Neugebauer syndrome: Split foot/split hand and congenital nystagmus. Clin Genet 27: 97-101.
18. Sakazume S, Sorokina E, Iwamoto Y, Semina EV. 2007. Functional analysis of human mutations in homeodomain transcription factor PITX3. BMC Mol Biol 8: 84.
19. Spranger M, Schapera J. 1988. Anomalous inheritance in a kindred with split hand, split foot malformation. Eur J Pediatr 147: 202-205.
20. Summers KM, Withers SJ, Gole GA, Piras S, Taylor PJ. 2008. Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3. Mol Vis 14: 2010-2015.
21. Wong SC, Cobben JM, Hiemstra S, Robinson PH, Heeg M. 1998. Karsch-Neugebauer syndrome in two sibs with unaffected parents. Am J Med Genet 75: 207-210.
22. Zaremba J. 1969. Ectrodactyly and the problem of gonadal mosaicism. Pol Tyg Lek 24: 1762-1764.
23. Zlotogora J. 1994. On the inheritance of the split hand/split foot malformation. Am J Med Genet 53: 29-32.