A unique case of de novo 5q33.3-q34 triplication with uniparental isodisomy of 5q34-qter

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 1904-1909

  Fujita, Atsushi ^a   Suzumura, Hiroshi ^b   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^a   Saitsu, Hirotomo ^a   Harada, Naoki ^c   Matsumoto, Naomichi ^a   Miyake, Noriko ^a  

^a YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b DOKKYO MEDICAL UNIVERSITY   (Japan)

^c LSI MEDIENCE CORPORATION   (Japan)

Author keywords

5q; Genomic rearrangement; SNP array; Triplication; Uniparental isodisomy

Indexed keywords

ARTIFICIAL LUNG SURFACTANT; INDOMETACIN;

AORTA VALVE STENOSIS; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 5Q; CHROMOSOME ANALYSIS; CHROMOSOME INVERSION; CHROMOSOME REPLICATION; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; ENDOTRACHEAL INTUBATION; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FOXI1 GENE; GABRG2 GENE; GENE; GENE REARRANGEMENT; HAPLOTYPE; HETEROZYGOSITY LOSS; HUMAN; KARYOTYPE 46,XX; MEDICAL HISTORY; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN INTENSIVE CARE; NIPAL4 GENE; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; TETRASOMY; UNIPARENTAL DISOMY;

5Q; GENOMIC REARRANGEMENT; SNP ARRAY; TRIPLICATION; UNIPARENTAL ISODISOMY;

ADULT; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, PAIR 5; DNA COPY NUMBER VARIATIONS; FEMALE; GENOME, HUMAN; GESTATIONAL AGE; HUMANS; KARYOTYPING; MALE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; REAL-TIME POLYMERASE CHAIN REACTION; UNIPARENTAL DISOMY;

EID: 84880704451     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36026     Document Type: Article

References (18)

1. Beneteau C, Landais E, Doco-Fenzy M, Gavazzi C, Philippe C, Beri-Dexheimer M, Bonnet C, Vigneron J, Walrafen P, Motte J, Leheup B, Jonveaux P. 2011. Microtriplication of 11q24.1: A highly recognisable phenotype with short stature, distinctive facial features, keratoconus, overweight, and intellectual disability. J Med Genet 48:635-639.
2. Brzustowicz LM, Allitto BA, Matseoane D, Theve R, Michaud L, Chatkupt S, Sugarman E, Penchaszadeh GK, Suslak L, Koenigsberger MR, Gilliam TC, Handelin BL. 1994. Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. Am J Hum Genet 54:482-488.
3. Engel E. 2006. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet 14:1158-1169.
4. Fryns JP, Kleczkowska A, Borghgraef M, Raveschot J, Van den Berghe H. 1987. Distinct dysmorphic syndrome in a child with inverted distal 5q duplication. Ann Genet 30:186-188.
5. Liehr T. 2010. Cytogenetic contribution to uniparental disomy (UPD). Mol Cytogenet 3:8.
6. Lin SP, Huang SY, Tu ME, Wu YH, Lin CY, Lin HY, Lee-Chen GJ. 2007. Netherton syndrome: Mutation analysis of two Taiwanese families. Arch Dermatol Res 299:145-150.
7. Martin DM, Mindell MH, Kwierant CA, Glover TW, Gorski JL. 2003. Interrupted aortic arch in a child with trisomy 5q31.1q35.1 due to a maternal (20;5) balanced insertion. Am J Med Genet Part A 116A:268-271.
8. Martin NJ, Cartwright DW, Harvey PJ. 1985. Duplication 5q(5q22-5q33): From an intrachromosomal insertion. Am J Med Genet 20:57-62.
9. Miyake N, Tonoki H, Gallego M, Harada N, Shimokawa O, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2004. Phenotype-genotype correlation in two patients with 12q proximal deletion. J Hum Genet 49:282-284.
10. Rauen KA, Bitts SM, Li L, Golabi M, Cotter PD. 2001. Tandem duplication mosaicism: Characterization of a mosaic dup(5q) and review. Clin Genet 60:366-370.
11. Robinson WP. 2000. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 22:452-459.
12. Sanchez-Garcia JF, de Die-Smulders CE, Weber JW, Jetten AG, Loneus WH, Hamers AJ, Engelen JJ. 2001. De novo duplication (5)(q31.3q33.3): Report of a patient and characterization of the duplicated region using microdissection and FISH. Am J Med Genet 100:56-61.
13. Seal JL, Gornick MC, Gogtay N, Shaw P, Greenstein DK, Coffey M, Gochman PA, Stromberg T, Chen Z, Merriman B, Nelson SF, Brooks J, Arepalli S, Wavrant-De Vrieze F, Hardy J, Rapoport JL, Addington AM. 2006. Segmental uniparental isodisomy on 5q32-qter in a patient with childhood-onset schizophrenia. J Med Genet 43:887-892.
14. Vialard F, Mignon-Ravix C, Parain D, Depetris D, Portnoi MF, Moirot H, Mattei MG. 2003. Mechanism of intrachromosomal triplications 15q11-q13: A new clinical report. Am J Med Genet Part A 118A:229-234.
15. Wang J, Reddy KS, Wang E, Halderman L, Morgan BL, Lachman RS, Lin HJ, Cornford ME. 1999. Intrachromosomal triplication of 2q11.2-q21 in a severely malformed infant: Case report and review of triplications and their possible mechanism. Am J Med Genet 82:312-317.
16. Witters I, Van Buggenhout G, Moerman P, Fryns JP. 1998. Prenatal diagnosis of de novo distal 5q duplication associated with hygroma colli, fetal oedema and complex cardiopathy. Prenat Diagn 18:1304-1307.
17. Yamazawa K, Ogata T, Ferguson-Smith AC. 2010. Uniparental disomy and human disease: An overview. Am J Med Genet Part C 154C:329-334.
18. Yang T, Vidarsson H, Rodrigo-Blomqvist S, Rosengren SS, Enerback S, Smith RJ. 2007. Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet 80:1055-1063.