Prenatal diagnosis of partial trisomy 21 associated with maternal balanced translocation 46xx der 21 t(21q;22q) with pericentric inversion of chromosome 9

Journal of Postgraduate Medicine

Volumn 49, Issue 2, 2003, Pages 154-156

  Parmar, Ramesh C ^a   Sira, P ^b  

^a MADRAS MEDICAL MISSION HOSPITAL   (India)

^b NONE

Author keywords

Inversion 9; Prenatal diagnosis; Translocation (21; 22); Trisomy 21

Indexed keywords

ABORTION; ADULT; AMNIOCENTESIS; CASE REPORT; CHROMOSOME 21Q; CHROMOSOME 22Q; CHROMOSOME 9; CHROMOSOME TRANSLOCATION; CYTOGENETICS; DISEASE ASSOCIATION; DOWN SYNDROME; FEMALE; FETUS; FIRST TRIMESTER PREGNANCY; HUMAN; INFERTILITY; KARYOTYPE 46,XX; PARTIAL TRISOMY; PERICENTRIC CHROMOSOME INVERSION; PRENATAL DIAGNOSIS; REVIEW;

ADULT; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 22; CHROMOSOMES, HUMAN, PAIR 9; DOWN SYNDROME; FEMALE; HUMANS; INVERSION, CHROMOSOME; PREGNANCY; PRENATAL DIAGNOSIS; TRANSLOCATION, GENETIC;

EID: 0041629067     PISSN: 00223859     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (17)

1. Verma IC, Mathew S, Elango R, Shukla A. Cytogenetic studies in Down syndrome. Indian Pediatr 1991;28:991-6.
2. Teo SH, Tan M, Knight L, Ng I. Pericentric inversion 9-incidence and clinical significance. Ann Acad Med Singapore 1995;24:302-4.
3. Kodama Y. Cytogenetic and dermatoglyphic studies on severely handicapped patients in an institution. Acta Med Okayama 1982;36:383-7.
4. Makino T, Tabuchi T, Nakada K, Iwasaki K, Tamura S, Ilizuka R. Chromosomal analysis in Japanese couples with recurrent spontaneous abortions. Int J Fertil 1990;35:266-70.
5. Miyazaki M, Hashimoto T, Tayama M, Ueta T Congenital myotonic dystrophy associated with chromosome pericentric inversion. Neuropediatrics 1991;22:181-3.
6. Yamada K. Population based studies of INV (9) chromosomes in 4,300 Japanese: incidence, sex difference and clinical significance. Jpn J Hum Genet 1992;37:293-301.
7. Kunugi H, Lee KB, Nanko S. Cytogenetic findings in 250 schizophrenics: evidence confirming an excess of the chromosome aneupolidies and pericentric inversion of chromosome 9. Schizophr Res 1999;40:43-7.
8. Miyako T, Seno H, Itago M, Ishino H. A case of small cerebral cyst and pericentric inversion of chromosome 9 that developed schizophrenia-like psychosis. Psychaitry Clin Neurosci 1999;53:599-602.
9. Diejomaoh MF, Al-Azemi M, Jirous J, Bandar A, Egbase P, Al-Sweih N. The aetiology and pattern of recurrent pregnancy loss. J Obstet Gynaecol 2002;22:62-7.
10. Daniely M, Aviram-Goldring A, Barkai G, Goldman B. Detection of chromosomal aberration in fetuses arising from recurrent spontaneous abortion by comparative genomic hybridization. Hum Reprod 1998;13:805-9.
11. Be C, Velasquez P, Youlton R. Spontaneous abortion: Cytogenetic study of 609 cases. Rev Med Chil 1997;125:317-22.
12. Mueller UW, Hawes CS, Wright AE, Petropoulos A, De Boni E, Firgnira FA, et al. Isolation of fetal trophoblast cells from peripheral blood of pregnant women. Lancet 1990;336:197-200.
13. Lee HH, Chang LG, Lin SP, Chao HT, Yang ML, Ng HT. Rapid detection of trisomy 21 by homologues gene quantitative PCR (HGQ-PCRT). Hum Genet 1997;99:364-7.
14. Serra A, Brahe C, Millington-Ward T, Neri G, Tedeschi B, Tassone F, et al. Pericentric inversion of chromosome 9: prevalence in 300 Down syndrome families and molecular studies of nondisjunction. Am J Med Genet Suppl 1990;7:162-8.
15. Ko TM, Hseieh FJ, Chang LS, Pan MF, Lee TY. Pericentric inversion of chromosome 9 in Taiwanese fetuses. J Formos Med Assoc 1992;91:473-4.
16. Toyota T, Shimizu H, Yamada K, Yoshitsugu K, Meerabux J, Hattori E. Karyotype analysis of 161 unrelated schizophrenics: no increased incidence rates of X chromosome mosaicism or inv (9), using ethnically matched and age stratified controls. Schizophr Res 2001;52:171-9.
17. Scarinci R, Anichini C, Vivarelli R, Berardi R, Pucci L, Rosaia L, et al. Correlation of the clinical phenotype with a pericentric inversion of chromosome 9. Boll Soc Ital Biol Sper 1992:68:175-81.