Three cell line mosaicism involving structural and numerical abnormalities of chromosome 18 in a 3.5-Year-old girl: 47,XX,+18/47,XX,+del(18)(q22)/46,XX

American Journal of Medical Genetics

Volumn 102, Issue 2, 2001, Pages 192-199

  Sutcliffe, Maxine J ^a,c   Thomas Mueller, O ^a   Kousseff, Boris G ^b   Dumont, Doris P ^b,c   McFarland, Julia A ^c   Mawani, Fayaz ^a   Conforto, Danielle ^c   Ranells, Judith D ^b  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b JOHNS HOPKINS ALL CHILDREN S HOSPITAL   (United States)

^c All Children's Heart Institute   (United States)

Author keywords

Chromosome mosaicism; Deletion 18q; Trisomy 18

Indexed keywords

ARTICLE; CASE REPORT; CELL LINE; CHILD; CHROMOSOME 18; CHROMOSOME ANALYSIS; CHROMOSOME BREAKAGE; CHROMOSOME MOSAICISM; CYTOGENETICS; FEMALE; GENE DELETION; GENE DUPLICATION; HUMAN; MICROSATELLITE INSTABILITY; NUMERICAL CHROMOSOME ABERRATION; PRIORITY JOURNAL; SKIN FIBROBLAST; TRISOMY 18;

CELLS, CULTURED; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 18; CYTOGENETIC ANALYSIS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MODELS, GENETIC; MOSAICISM; TRISOMY;

EID: 0035425858     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/1096-8628(20010801)102:2<192::AID-AJMG1445>3.0.CO;2-D     Document Type: Article

References (44)

1. Isochromosome 18p in a mother and her child
2. Partial 18q trisomy and 18p monosomy resulting from a maternal pericentric inversion, inv(18)(p112-q21.3)
3. 18q- and 18q+ mosaicism in a mentally retarded boy
4. Partial trisomy of chromosome 18 (pter-q12) following a familial 18;21 translocation rcp(18;21)(q12;q11)
5. Triple structural mosaicism of chromosome 18 in a child with MCA/MR syndrome and abnormal skin pigmentation
6. Tetrasomy 18p de novo: Parental origin and different mechanisms of formation
7. Trisomy 18 mosaicism in a 24-year-old white Woman with normal intelligence and skeletal abnormalities
8. Preferential loss of the paternal alleles in the 18q- syndrome
9. Tetrasomy 18p caused by paternal meiotic nondisjunction
10. Prenatal diagnosis of monosomy 18 and ring 18 mosaicism
11. 18p Tetrasomy: Further evidence for a distinctive clinical syndrome
12. Mosaic 46,XY/47,XY,+der(18) t(Y;18)(q11.2;q11.2) karyotype, moderate mental retardation and non-specific dysmorphism
13. A mosaic case of isodicentric chromosome 18
14. Dystonia in a patient with deletion of 18q
15. A 20 year old male with partial trisomy 18q- as diagnosed by in situ hybridization
16. Incidence and significance of chromosome mosaicism involving an autosomal structural abnormality diagnosed prenatally through amniocentesis: A collaborative study
17. Transmission of a ring chromosome 18 from a mother with 46,XX/47,XX,+r(18) mosaicism to her daughter, resulting in a 46,XX,r(18) karyotype
18. Spontaneous abortion and confined chromosomal mosaicism
19. Isochromosome 18p results from maternal meiosis II nondisjunction
20. Prenatal detection of de novo duplication of the short arm of chromosome 18 confirmed by fluorescence in-situ hybridization (FISH)
21. Mosaic trisomy 18 male with normal intelligence who fathered a normal baby girl
22. Trisomy 21-trisomy 18 mosaicism in a boy with clinical Downs syndrome
23. Trisomy 18 mosaicism with few stigmata including macrogenitalia
24. Partial trisomy of the short arm of chromosome 18 due to inversion duplication and direct duplication
25. Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes
26. Partial trisomy 18 in a family with a translocation
27. Diagnosis of Di George and Williams syndrome using fish(FISH) analysis of peripheral blood smears
28. Mosaicism in three cases of 47,XY (or XX),+i(18)(p10) detected by interphase fish of buccal mucosa
29. A history of miscarriage and mild prognathism as possible mode of presentation of mosaic trisomy 18 in women
30. Molecular characterization of patients with 18q23 deletions
31. Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1]
32. Gonadal dysgenesis in del(18p) syndrome
33. Trisomy 18 and trisomy 21 mosaicism in a Down's syndrome patient
34. Trisomy 18 mosaicism in a woman with normal intelligence, pigmentary dysplasia and an 18 trisomic daughter
35. Chromosome 18 Aneuploidy: Anatomical variations observed in cases of full and mosaic trisomy 18 and a case of deletion of the short arm of chromosome 18
36. Isochromosome 18q in a girl with holoprosencephaly, Di George anomaly and streak ovaries
37. Partial trisomy 18 with minimal anomalies: Lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18
38. Prenatal ascertainment of an inherited dup(18p) associated with an apparently normal phenotype
39. Precise mapping of a de novo duplication 18(q21-q22) utilizing cytogenetic, biochemical and molecular techniques