First postnatal case of mosaic del(22)/r(22) [3]

Prenatal Diagnosis

Volumn 23, Issue 9, 2003, Pages 765-767

  Starke, Heike ^a   Mitulla, Beate ^b   Beensen, Volkmar ^a   Trifonov, Vladimir ^a,c   Rubtsov, Nikolai ^a,c   Heller, Anita ^a   Ziegler, Monika ^a   Neumann, Annett ^a   Claussen, Uwe ^a   Liehr, Thomas ^a  

^a Inst of Hum Genet/Anthropology   (Germany)

^b Central Clinic Sudthuringen   (Germany)

^c INSTITUTE OF CYTOLOGY AND GENETICS   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CHROMOSOME 22; CHROMOSOME ANALYSIS; CHROMOSOME BANDING PATTERN; CHROMOSOME DELETION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DIGEORGE SYNDROME; DISEASE COURSE; EXPRESSED SEQUENCE TAG; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; LETTER; METAPHASE; MONOSOMY; PARTIAL TRISOMY; PERINATAL PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; RING CHROMOSOME; ROBERTSONIAN CHROMOSOME TRANSLOCATION;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 22; DIAGNOSIS, DIFFERENTIAL; FEMALE; GENETIC COUNSELING; HUMANS; INFANT; MOSAICISM;

ROBERTSONIA;

EID: 10744233018     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.666     Document Type: Letter

References (8)

1. Bergman A, Blennow E. 2000. Inv dup(22), del(22)(q11) and r(22) in the father of a child with Di George syndrome. Eur J Hum Genet 8: 801-804.
2. Chen CP, Chern SR, Chang TY, et al. 2003. Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction. Prenat Diagn 23: 40-43.
3. Edelmann L, Spiteri E, McCain N, et al. 1999. A common molecular basis for the rearrangement disorders on chromosome 22q11. Hum Mol Genet 8: 1157-1167.
4. Frizzley JK, Stephan MJ, Lamb AN, et al. 1999. Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation. J Med Genet 36: 237-241.
5. Liehr T, Heller A, Starke H, et al. 2002. Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9: 335-339.
6. Phelan MC, Brown EF, Rogers RC. 2001. Prenatal diagnosis of mosaicism for deletion 22q13.3. Prenat Diagn 21: 1100.
7. Reiter LT, Liehr T, Rautenstrauss B, Robertson HM, Lupski JR. 1999. Localization of mariner DNA transposons in the human genome by PRINS. Genome Res 9: 839-843.
8. Robertson HM, Martos R. 1997. Molecular evolution of the second ancient human transposon, Hsmar2, illustrates patterns of neutral evolution in the human genome lineage. Gene 205: 219-228.