Muellerian aplasia associated with ring chromosome 8p12q12 mosaicism

American Journal of Medical Genetics

Volumn 116, Issue 3, 2003, Pages 290-294

  Loeffler, Judith ^a   Soelder, Elisabeth ^b   Erdel, Martin ^a   Utermann, Barbara ^a   Janecke, Andreas ^a   Duba, Hans Christoph ^a   Utermann, Gerd ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

^b Universitatsklin F Frauenheilkunde   (Austria)

Author keywords

Chromosome microdissection; Mayer Rokitansky Kuster Hauser syndrome; Muellerian aplasia; Ring chromosome 8

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 8P; CHROMOSOME MICRODISSECTION; CHROMOSOME MOSAICISM; CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CYTOGENETICS; DISEASE COURSE; FACE DYSMORPHIA; FEMALE; FEMALE GENITAL TRACT MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KIDNEY MALFORMATION; MUELLERIAN DUCT; PARTIAL TRISOMY; PHENOTYPE; PRIORITY JOURNAL; RING CHROMOSOME; SKELETON MALFORMATION; SUPERNUMERARY CHROMOSOME;

EID: 12244302502     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.10902     Document Type: Article

References (14)

1. Batanian JR, Huang Y, Gottesman GS, Grange DK, Blasingame AV. 2000. Preferential involvement of the short arm in chromosome 8-derived supernumerary markers and ring as identified by chromosome arm painting. Am J Med Genet 90:276-282.
2. Benn PA, Perle MA. 1992. Chromosome staining and banding techniques. In: Rooney DA, Czepulkowski BH, editors. Human cytogenetics. Oxford, New York, Tokyo: IRL Press. p 91-118.
3. Butler MG, Roback EW, Allen GA, Dev VG. 1995. Identification of a ring chromosome as a ring 8 using fluorescent in situ hybridization (FISH) in a child with multiple congenital anomalies. Am J Med Genet 57:494-495.
4. Buttross S, Massingale TW, Feingold M. 1990. Picture of the month. Trisomy 8/mosaic syndrome. Am J Dis Child 144:507-508.
5. Guan XY, Meltzer PS, Trent JM. 1994. Rapid generation of whole chromosome painting probes (WCPs) by chromosome microdissection. Genomics 22:101-107.
6. Loffler J, Utermann B, Duba HC, Mayr U, Utermann G, Erdel M. 2000. Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7). Am J Med Genet 91:291-297.
7. Melnyk AR, Dewald G. 1994. Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies. Am J Med Genet 50:12-14.
8. Miller K, Arslan-Kirchner A, Schulze B, Dudel-Neujahr A, Morlot M, Burck U, Gerresheim F. 1997. Mosaicism in trisomy 8: phenotype differences according to tissular repartition of normal and trisomic clones. Ann Genet 40:181-184.
9. Online Mendelian Inheritance in Man, OMIM™. 2000. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD) http://www.ncbi.nlm.nih.gov/omim/.
10. Riccardi VM, Crandall BF. 1978. Karyotype-phenotype correlation: mosaic trisomy 8 and partial trisomies of different segments of chromosomes 8. Hum Genet 41:363-367.
11. Rothenmund H, Chudley AE, Dawson AJ. 1997. Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: an update. Am J Med Genet 72;339-342.
12. Simpson JL. 1999. Genetics of the female reproductive ducts. Am J Med Genet 89:224-239.
13. Spinner NB, Grace KR, Owens NL, Sovinsky L, Pellegrino JE, McDonald-McGinn D, Zackai E. 1995. Mosaicism for a chromosome 8-derived minute marker chromosome in a patient with manifestations of trisomy 8 mosaicism. Am J Med Genet 56:22-24.
14. Tonk VS, Kukolich MK, Morgan D, Khan A, Jalal SM. 2000. Ring chromosome 8 syndrome: further characterization. Am J Med Genet 90:162-164.