Pericentric inversion, inv(14)(p11.2q22.3), in a 9-month old with features of Goldenhar syndrome

Clinical Dysmorphology

Volumn 19, Issue 4, 2010, Pages 185-189

  Northup, Jill K ^a,b   Matalon, Dena ^a   Hawkins, Judy C ^a   Matalon, Reuben ^a   Velagaleti, Gopalrao V N ^a,c  

^a UNIVERSITY OF TEXAS MEDICAL BRANCH   (United States)

^b SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c University of Texas Health Science Center at San Antonio   (United States)

Author keywords

fluorescence in situ hybridization; Goldenhar syndrome; hemifacial microsomia; inv(14)

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CHROMOSOME 14P; CHROMOSOME ARM; CHROMOSOME BREAKAGE; CHROMOSOME REARRANGEMENT; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION; GENETIC LINKAGE; GOLDENHAR SYNDROME; HUMAN; HUMAN CELL; INFANT; INHERITANCE; MALE; PERICENTRIC CHROMOSOME INVERSION; PHENOTYPE; PRIORITY JOURNAL;

CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 14; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE;

EID: 77957605560     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283359386     Document Type: Article

References (34)

1. Ahmad ME, Dada R, Dada T, Kucheria K (2003). 14q (22) deletion in a familial case of anophthalmia with polydactyly. Am J Med Genet 120 A: 117-122.
2. Bennett CP, Betts DR, Seller MJ (1991). Deletion 14q (q22q23) associated with anophthalmia, absent pituitary, and other abnormalities. J Med Genet 28:280-281.
3. Cohen MM Jr, Rollnick BR, Kaye CI (1989). Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J 26:276-286.
4. Elliott J, Maltby EL, Reynolds B (1993). A case of deletion 14 (q22.1-q22.3) associated with anophthalmia and pituitary abnormalities. J Med Genet 30:251-252.
5. Fischer S, Lüdecke H-J, Wieczorek D, Bohringer S, Gillessen-Kaesbach G, Horsthemke B (2006). Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum. Hum Mol Genet 15:581-587.
6. Fraser FC, Ling D, Clogg D, Nogrady B (1978). Genetic aspects of the BOR syndrome - branchial fistulas, ear pits, hearing loss, and renal anomalies. Am J Med Genet 2:241-252.
7. Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, et al. (1999). Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associated SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies. Genomics 61:82-91.
8. Gallardo ME, Rodíguez de Córdoba S, Schneider AS, Dwyer MA, Ayuso C, Bovolena P (2004). Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/micropthlamia. Am J Med Genet 129 A: 92-94.
9. Gaunt SJ, Blum M, De Robertis EM (1993). Expression of the mouse goosecoid gene during mid-embryogenesis may mark mesenchymal cell lineages in the developing head, limbs and body wall. Development 117:769-778.
10. Gorlin RJ, Jue JL, Jacobsen V, Goldschmidt E (1963). Oculoauriculovertebral dysplasia. J Pediatr 63:991-999.
11. Heimler A, Lieber E (1986). Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred. Am J Med Genet 25:15-27.
12. ISCN (2005). An International System for Human Cytogenetic Nomenclature. In: Shaffer LG, Tommerup N, editors. M. Basel: Karger S.
13. Jongbloet PH (1987). Goldenhar syndrome and overlapping dysplasias, in vitro fertilisation and ovopathy. J Med Genet 24:616-620.
14. Kaye CI, Martin AO, Rollnick BR, Nagatoshi K, Israel J, Hermanoff M, et al. (1992). Oculoauriculovertebral anomaly: segregation analysis. Am J Med Genet 43:913-917.
15. Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D, et al. (2001). Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Hum Genet 109:638-645.
16. Kobrynski L, Chitayat D, Zahed L, McGregor D, Rochon L, Brownstein S, et al. (1993). Trisomy 22 and facioauriculoverterbal (Goldenhar) sequence. Am J Med Genet 46:68-71.
17. Kramer MS (1987). Determination of low birth weight: methodological assessment and meta analysis. Bull World Health Org 65:663-737.
18. Lemyre E, Lemieux N, Décarie JC, Lambert M (1998). Del (14) (q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia. Am J Med Genet 77:162-165.
19. Melnick M, Bixler D, Silk K, Yune H, Nance WE (1975). Autosomal dominant branchio-oto-renal dysplasia. Birth Defects Orig Artic Ser 11:121-128.
20. Mencarelli MA, Katzaki E, Papa FT, Sampieri K, Caselli R, Uliana V, et al. (2008). Private inherited microdeletion/microduplications: implications in clinical practice. Eur J Med Genet 51:409-416.
21. Miller CT, Yelon D, Strinier DY, Kimmel CB (2003). Two endothelin 1 effectors, hand2 and bapx1, pattern ventral pharyngeal cartilage and the jaw development. Development 130:1353-1365.
22. Nolen LD, Amor D, Haywood A, St. Heaps L, Willcock C, Mihelec M, et al. (2006). Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies. Am J Med Genet 140 A: 1711-1718.
23. Opitz J (1986). Developmental field theory and observations-accidental progress? Am J Med Genet 2(Suppl):1-9.
24. Ou Z, Martin DM, Bedoyan JK, Cooper ML, Chinault AC, Stankiewicz P, et al. (2008). Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6 and OTX2 resulting from a complex chromosomal rearrangement. Am J Med Genet 146 A: 2480-2489.
25. Pazooki M, Lebbar A, Roubergues A, Baverel F, Letessier D, Dupont JM (2007). Pure familial 6q21q22.1 duplication in two generations. Eur J Med Genet 50:60-65.
26. Ragge NK, Brown AG, Poloschek CM, Lorenz B, Henderson RA, Clarke MP, et al. (2005). Heterozygous mutations of OTX2 cause severe ocular malformations. Am J Hum Genet 76:1008-1022.
27. Regenbogen L, Godel V, Goya V, Goodman RM (1982). Further evidence for an autosomal dominant form of oculoauriculovertebral dysplasia. Clin Genet 21:161-167.
28. Rivera-Perez JA, Mallo M, Gendron-Maguire M, Gridley T, Behringer RR (1995). Goosecoid is not an essential component of the mouse gastrula organizer but is required for craniofacial and rib development. Development 121:3005-3012.
29. Ruf RG, Xu PX, Silvius D, Otto EA, Beekmann F, Muerb UT, et al. (2004). SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci USA 101:8090-8095.
30. Summitt RL (1969). Familial Goldenhar syndrome. Birth Defects Orig Art Ser 5:106-109.
31. Velagaleti GVN, Bien-Willner GA, Northup JK, Lockhart LH, Hawkins JC, Jalal SM, et al. (2005). Position effects due to chromosome breakpoints that map approximately 900 Kb upstream and approximately 1.3 Mb downstream of SOX9 in two patients with campomelic dysplasia. Am J Hum Genet 76:652-662.
32. Vendramini-Pittoli S, Kokitsu-Nakata NM (2009). Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature. Clin Dysmorphol 18:67-77.
33. Yamada G, Mansouri A, Torres M, Stuart ET, Blum M, Schultz M, et al. (1995). Targeted mutation of the murine goosecoid gene results in craniofacial defects and neonatal death. Development 121:2917-2922.
34. Zelante L, Gasparini P, Scanderberg AC, Dimitri L, Criconia M, Gorlin RJ (1997). Goldenhar complex: a further case with uncommon associated anomalies. Am J Med Genet 69:418-421.