Case report: Denovo inherited 18p deletion in a mother-fetus pair with extremely variable expression, confirmed by fluorescence in situ hybridization (FISH) analysis

European Journal of Obstetrics and Gynecology and Reproductive Biology

Volumn 73, Issue 2, 1997, Pages 193-196

  Tonk, Vijay ^a   Krishna, Jyoti ^a  

^a TEXAS TECH UNIVERSITY HEALTH SCIENCES CENTER SCHOOL OF MEDICINE   (United States)

Author keywords

18p ; Chromosome deletions; FISH

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 18P; CHROMOSOME DELETION; FETOPLACENTAL UNIT; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 0030836601     PISSN: 03012115     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0301-2115(97)02749-8     Document Type: Article

References (8)

1. de Grouchy J, Lamy M, Thieffry S, Arthuis M, Salmon C. Dysmorphie complexe avec oligophrenie: deletion des bras courts d'un chromosome 17-18. CR Acad Sci (Paris) 1963; 256:1028-1029.
2. Jones KL, ed. Smith's recognizable patterns of human malformation. Philadelphia: WB Saunders, 1988; pp. 56-57.
3. Zumel RM, Darnaude MT, Delicado A, Diaz de Bustamante A, Torres ML de, Lopez-Pajares I. The 18p-syndrome. Report of five cases. Ann Genet 1989; 32:160-163.
4. Johnson G, Bachman R. A 46,XY,del(18)(pter->p1100) cebocephalic child from a 46,XX,t(12;18)(18 pter->18 p1100::12 qter->12 pter) normal parent. Hum Genet 1976; 34:103-106.
5. Seabright M. A rapid banding technique for human chromosomes. Lancet 1971; 2:971-972.
6. Motegi T, Ichikawa A, Noda M, Hashimoto G, Kaga M. 18p-Mosaicism. Hum Genet 1978; 44:213-217.
7. Funderburk SJ, Sparks RS, Klisak I. 18p-syndrome resulting from 14q/18q Mosaicism. Hum Genet 1997; 36:243-250.
8. Faust J, Habedank M, Nieuwenhuijsen C. The 18p-syndrome. Report of four cases. Eur J Pediatr 1976; 123:59-66.