Trisomy rescue mechanism: The case of concomitant mosaic trisomy 14 and maternal uniparental disomy 14 in a 15-year-old girl

Clinical Case Reports

Volumn 4, Issue 3, 2016, Pages 265-271

  Balbeur, Samuel ^a   Grisart, Bernard ^a   Parmentier, Benoit ^a   Sartenaer, Daniel ^a   Leonard, Pierre Emmanuel ^a   Ullmann, Urielle ^a   Boulanger, Sébastien ^a   Leroy, Luc ^a   Ngendahayo, Placide ^a   Lungu Silviu, Constantin ^b   Lysy, Philippe ^c   Maystadt, Isabelle ^a  

^a INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^b INDC Entité Jolimontoise ^*  (Belgium)

^c CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

Author keywords

Abnormal skin pigmentation pattern; Genomic imprinting; Intellectual disability; Maternal uniparental disomy of chromosome 14; Prader Willi like phenotype; Precocious puberty; Trisomy 14

Indexed keywords

LOW DENSITY LIPOPROTEIN CHOLESTEROL;

ADOLESCENT; ARTICLE; BODY MASS; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CHROMOSOME ANALYSIS; COMORBIDITY; ECHOCARDIOGRAPHY; ELECTRON MICROSCOPY; FEMALE; GLUCOSE TOLERANCE TEST; HUMAN; HUMAN TISSUE; HYPERPIGMENTATION; INTELLECTUAL IMPAIRMENT; LOW BIRTH WEIGHT; MATERNAL UNIPARENTAL DISOMY 14; MOSAIC TRISOMY 14; OBESITY; PRADER WILLI SYNDROME; PRECOCIOUS PUBERTY; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; SPEECH DELAY; TRISOMY; UNIPARENTAL DISOMY; URINALYSIS;

EID: 84983254390     PISSN: None     EISSN: 20500904     Source Type: Journal    
DOI: 10.1002/ccr3.501     Document Type: Article

References (14)

1. Hosoki, K., M. Kagami, T. Tanaka, M. Kubota, K. Kurosawa, M. Kato, et al. 2009. Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype. J. Pediatr. 155:900-903.
2. Rocha, C. F., and C. L. Paiva . 2014. Prader-Willi-like phenotypes: a systematic review of their chromosomal abnormalities. Genet. Mol. Res. 13:2290-2298.
3. Ioannides, Y., K. Lokulo-Sodipe, D. J. Mackay, J. H. Davies, and I. K. Temple . 2014. Temple syndrome: improving the recognition of an underdiagnosed chromosome 14 imprinting disorder: an analysis of 51 published cases. J. Med. Genet. 51:495-501.
4. Salas-Labadia, C., E. Lieberman, R. Cruz-Alcivar, P. Navarrete-Meneses, S. Gòmez, C. Cantú-Reyna, et al. 2014. Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis. Mol. Cytogenet. 7:65.
5. Ogata, T., and M. Kagami . 2008. Molecular mechanisms leading to the phenotypic development in paternal and maternal uniparental disomy for chromosome 14. Clin. Pediatr. Endocrinol. 17:103-111.
6. Hordijk, R., H. Wierenga, H. Scheffer, B. Leegte, R. M. Hofstra, and I. Stolte-Dijkstra . 1999. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. J. Med. Genet. 36:782-785.
7. Kagami, M., Y. Sekita, G. Nishimura, M. Irie, F. Kato, M. Okada, et al. 2008. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat. Genet. 40:237-242.
8. Temple, I. K., V. Shrubb, M. Lever, H. Bullman, and D. J. Mackay . 2007. Isolated imprinting mutation of the DLK1/GTL2 locus associated with a clinical presentation of maternal uniparental disomy of chromosome 14. J. Med. Genet. 44:637-640.
9. Zada, A., F. E. Mundhofir, R. Pfundt, N. Leijsten, W. Nillesen, S. M. H. Faradz, et al. 2014. A rare, recurrent, de novo 14q32.2q32.31 microdeletion of 1.1 Mb in a 20-year-old female patient with a maternal UPD(14)-like phenotype and intellectual disability. Case Rep. Genet. 2014:530134.
10. Antonarakis, S. E., J. L. Blouin, J. Maher, D. Avramopoulos, G. Thomas, and C. C. Jr Talbot . 1993. Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. Am. J. Med. Genet. 52:1145-1152.
11. Conlin, L. K., B. D. Thiel, C. G. Bonnemann, L. Medne, L. M. Ernst, E. H. Zackai, et al. 2010. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum. Mol. Genet. 19:1263-1275.
12. Sanlaville, D., M. C. Aubry, Y. Dumez, M. Nolen, J. Amiel, M. Pinson, et al. 2000. Maternal uniparental heterodisomy of chromosome 14: chromosomal mechanism and clinical follow up. J. Med. Genet. 37:525-528.
13. Towner, D. R., L. G. Shaffer, S. P. Yang, and D. D. Walgenbach . 2001. Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction. Prenat. Diagn. 21:395-398.
14. Ralph, A., F. Scott, C. Tiernan, M. Caubere, S. Kollegger, J. Junio, et al. 1999. Maternal uniparental isodisomy for chromosome 14 detected prenatally. Prenat. Diagn. 19:681-684.