Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion

American Journal of Medical Genetics

Volumn 93, Issue 5, 2000, Pages 381-387

  Reid Sutton, V ^a   Shaffer, Lisa G ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Chromosome 14; Imprinting; Uniparental disomy

Indexed keywords

ARTICLE; BLEPHAROPHIMOSIS; CHROMOSOME 14Q; CHROMOSOME DELETION; FATHER; GENOME IMPRINTING; HIRSUTISM; HUMAN; MOTHER; PHENOTYPE; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; COMPARATIVE STUDY; FEMALE; GENOMIC IMPRINTING; HUMAN; MALE; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0034726689     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20000828)93:5<381::AID-AJMG7>3.0.CO;2-9     Document Type: Article

References (57)

1. Maternal uniparental disomy for human chromosome 14 due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14
2. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
3. Molecular analysis of three patients with interstitial deletions of chromosome band 14q31
4. Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly
5. Paternal uniparental disomy for chromosome 14: A case report and review
6. Maternal uniparental disomy for chromosome 14
7. Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
8. A case of deletion 14(q22.1-q22.3) associated with anophthalmia and pituitary abnormalities
9. Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
10. Parental origin effects in human trisomy for chromosome 14q: Implications for genomic imprinting
11. A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome
12. Another patient with a deletion 14q11.2q13
13. Distinct phenotype in maternal uniparental disomy of chromosome 14
14. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
15. Retinal/macular pigmentation in conjunction with ring 14 chromosome
16. Distal monosomy 14 not associated with ring formation
17. A systemic search for uniparental disomy in carriers of chromosome translocations
18. Deletion (14)(q24.3q32.1): Evidence for a distinct clinical phenotype
19. Two siblings with interstitial deletion of chromosome 14 [46,XX,del(14)(q12q13.3)]
20. Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
21. Uniparental disomy in humans: Development of an imprinting map and its implications for prenatal diagnosis
22. Del(14)(q22.1q23.2) in a patient with anophthalmia and pituitary hypoplasia
23. Nondisjunction of chromosome 21: Comparisons of cytogenetic and molecular studies of the meiotic stage and parent of origin
24. Identification of the chromosome 14 origin of a c-negative marker associated with a 14q32 deletion by chromosome painting
25. Towards a molecular understanding of Prader-Willi and Angelman syndromes
26. Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
27. Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q14q) as a common mechanism
28. Submicroscopic deletion in 14q32.2 through a de novo tandem translocation between 14q and 21p
29. Chromosome 14-terminal deletion and cataracts
30. Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation
31. Deletion 14q and pericentric inversion 14
32. Delineation of 14q32.3 deletion syndrome
33. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult
34. Maternal uniparental isodisomy of chromosome 14: Association with autosomal recessive rod monochromacy
35. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
36. Maternal uniparental isodisomy for chromosome 14 detected prenatally
37. Duplication 14(q24.3q31) in a father and daughter: Delineation of a possible imprinted region
38. A somatic origin of homologous robertsonian translocations and isochromosomes
39. The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain
40. De novo deletion(14)(q11.2q13) including PAX9: Clinical and molecular findings
41. Systematic search for uniparental disomy in early fetal losses: The results and a review of the literature
42. De novo proximal interstitial deletions of 14q: Cytogenetic and molecular investigations
43. Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX+14 karyotype
44. Another case of maternal uniparental disomy chromosome 14 syndrome
45. Terminal deletion (14)(q32.3): A new case
46. Maternal uniparental disomy for chromosome 14
47. Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty
48. Two patients with interstitial del(14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin)
49. A case of a female infant with simultaneous occurrence of de novo terminal deletions on chromosome 14q and 20p
50. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain
51. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)
52. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 robertsonian translocation carrier
53. Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome
54. Molecular analysis redefines three human chromosome 14 deletions
55. 1-antitrypsin)
56. A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears and mild mental retardation
57. Ring chromosome 14 syndrome