Double aneuploidy in three Egyptian patients: Down-Turner and Down-Llinefelter syndromes

Genetic Counseling

Volumn 16, Issue 4, 2005, Pages 393-402

  Zaki, Maha S ^a   Kamel, A A ^a   El Ruby, M ^a  

^a NATIONAL RESEARCH CENTRE   (Egypt)

Author keywords

Double aneuploidy; Down Klinefelter syndrome; Down Turner syndrome

Indexed keywords

ANEUPLOIDY; CASE REPORT; CHROMOSOME 21; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME BAND; CHROMOSOME MOSAICISM; CLINICAL FEATURE; DOWN SYNDROME; EGYPT; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; KLINEFELTER SYNDROME; MALE; MONOSOMY X; PHENOTYPE; PRESCHOOL CHILD; RARE DISEASE; REVIEW; SEX CHROMOSOME; TRISOMY 21; TURNER SYNDROME; ANAMNESIS; CELL LINE; CLINICAL EXAMINATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; FEMALE; HEART MURMUR; HEART VENTRICLE SEPTUM DEFECT; KARYOTYPE; MOSAICISM; NYSTAGMUS;

ANEUPLOIDY; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 21; CYTOGENETICS; DOWN SYNDROME; EGYPT; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; KLINEFELTER SYNDROME; MALE; PHENOTYPE; TURNER SYNDROME;

EID: 30444449370     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (35)

1. ALFI O.S., CHANG R.R., AZEN S.P.: Evidence for Genetic control of non-disjunction in man. Am. J. Hum. Genet., 1980, 32, 477-483.
2. AKBUZOVA S., CUCKLE H., MUELLEK R., SEHMI I.: Familial Down syndrome: evidence supporting cytoplasmic inheritance. Clin. Genet., 2001, 60, 456-462.
3. CASTEELS-VAN DAELE M., PROESMANS W., VAN DEN BERGHE H., VERRESEN H.: Down's anomaly (trisomy 21) and Turner's syndrome (46, XXqi) in the same sibship. Helv. Paediatr. Acta., 1970, 25(4), 412-420.
4. CHEN C.P., CHERN S.R., YEH L.F., CHEN W.L., CHEN L.F., WANG W.: Prenatal diagnosis and genetic analysis of double trisomy 48, XXX, +18. Prenat. Diagn., 2000, 20(9), 750-753.
5. FORD E.C., JONES K.W., MILLER O.J., MITTWOCH U., PENROSE L.S., RIDLER M., SHAPIRO A.: The chromosomes in a patient showing both Mongolism and Klinefelter syndrome. Lancet, 1959, 1, 709-710.
6. HOU J. W., WANG T.R.: Double aneuploidy with Down's-Klinefelter's syndrome. J. Formes Med. Assoc., 1996, 95, 350-352.
7. ILLIOPOULOS D., POULTSIDES G., PERISTERI V, KOURI G., ANDREOU A., VOYIATZIS N.: Double trisomy (48, XXY, +21) in monozygotic twins: Case report and review of the literature. Ann. Genet., 2004, 95-98.
8. JACOBS P.A.: The chromosome complement of human gametes. In: Oxford Reviews of Reproductive Biology. S.R. Milligan (ed.). Vol. 14. New York, Oxford University Press, 1992, 47-72.
9. JANSEN S., KRUGER A.J., LIEBENBERG G.: Turner/Down mosaicism. A case report. S. Afr. Med. J., 1991, 79, 73-732.
10. JARURATANASIRIKUL S., JINOROSE U.: An infant with Down-Turner double aneuploidy: a case report and literature review. J. Med. Assoc. Thai., 1995, 78(2), 108-112.
11. KEEFE D.L., NIVEN-FAIRCHILD T., POWELL S., BURADAGUNTA S.: Mitochondrial deoxyribonucleic acid deletions in oocytes and reproductive aging in women. Fertil. Steril., 1995, 64(3), 577-583.
12. KNUDTZON J., AARSKOG D.: 45, X/46, XY mosaicism. A clinical review and report often cases. Eur. J. Pediatr., 1987, 146, 266-271.
13. KRISHNA MURTHY D.S., FARAG T.I.: Recurrent regular trisomy 21 in two Bedouin families. Parental mosaicism versus genetic predisposition. Ann. Genet., 1995, 38 (4), 217-224.
14. LI S., HASSED S., MULVIHILL J.J., NAIR A.K., HOPGUS D.J.: Double trisomy. Letter to the Editor. Am J. Med. Genet., 2004, 124A, 996-998.
15. LICHTER P., GREMER T.: Chromosomal analysis by non-isotopic in situ hybridization. In: Human Cytogenetics: a Practical Approach. D. Rooney, B. Czepulkowski (eds). New York, Oxford University Press, 1992, 157-190.
16. LORDA-SANCHEZ I., PERSEN M.B., BINKER F., MAECHLER M., SCHMID W., ADELSBERGER P.A., ANTONARAKIS S.E., SCHINZEL A.: A 48, XXY+21 Down syndrome patient with additional paternal X and maternal 21. Hum. Genet., 1991, 87(1), 54-56.
17. MARTINEZ-PASARELL O., TEMPLADO C., VICENSCALVET E., EGOZCUE J., NOGUES C.: Paternal sex chromosome aneuploidy as a possible origin of Turner syndrome in monozygotic twins. Hum. Reprod., 1999, 14(11), 2735-2738.
18. MORENO ESTEBAN B., SILVA GARCIA V.A., PEREZ PEREZ P., APITZ J.J., CAMARERO A., SANCHEZ P., CERVIGON G., PALACIOS MATEOS J.M.: Consideration on an unusual case of Turner's syndrome XO/46 mosaic trisomy 21-XX. Rev. Clin. Esp., 1980, 157(3), 201-203.
19. MUSARELLA M.A., VERMA R.S.: An infant with Turner-Down aneuploidy and massive capillary hemangioma of the orbit: a case report with review. Ann. Genet., 2001, 44(2), 67-70.
20. MUTTON D., ALBERMAN E., HOOK E.B.: Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. J. Med. Genet., 1996, 33(5), 387-394.
21. NIELSEN K.G., POULSEN H., MIKKELSEN M., STEUBER E.: Multiple recurrence of trisomy 21 Down syndrome. Hum. Genet., 1988, 78, 103-105.
22. OSBORNE R.A., HENNIGAR G.R., BARNETT C.D.: Mosaic double aneuploidy of X and G chromosomes. Am. J. Ment. Defic., 1975, 79(6), 644-647.
23. PARK V.M., BRAVO R.R., SHULMAN L.P.: Double non-disjunction in maternal meiosis II giving rise to a fetus with 48, XXX, +21. J. Med. Genet., 1995, 32(8), 650-653.
24. PARMAR R.C., MURANJAN M.N., SWAMI S.: Trisomy 21 with XYY. Indian J. Pediatr., 2002, 69(11), 979-981.
25. PERWEIN E.: Incidence of Klinefelter's syndrome. In: Klinefelter's Syndrome. H.J. Bandman, R. Reit (eds). Berlin, Heidelberg, New York, Springer. 1984, 8-11.s
26. PETERSEN M.B., MIKKELSEN M. Non disjunction in Trisomy 21: origin and mechanisms. Cytogenet. Cell. Genet. 2000, 91(1-4), 199-203.
27. REDDY K.S.: Double trisomy in spontaneous abortion. Hum. Genet., 1997, 101, 339-345.
28. RUANGDAKAGNON W., KOTCHABHAKDI N., MEKANANDHA V: Double aneuploidy: 46, X, + 21 a combination of Down syndrome and Turner syndrome. J. Med. Assoc. Thai. 1993, 76 Suppl., 2, 215-217.
29. SPARAGANA M., WONG P.W., DORSCH T.R., CASTEN C., RAUER M., SZEGO K.: 45,X/ 46,XY/ 47,XY,+21 mosaicism in hypogonadal phenotypic male. J. Med. Genet., 1980, 17(4), 319-321.
30. TEMTAMY S.A., HUSSEIN F.H., EL-SALAM M.A., MEGUID N.A.: Grand maternal consanguinity: A possible predisposing factor for 21 trisomy Down syndrome in young mothers. J. Egypt. Publ. Health Assoc., 1991, 66 suppl, 203-212.
31. TSENG L-H., HUANG S-M., LEE T-Y., KO T-M.: Recurrent Down's syndrome due to maternal ovarian trisomy 21 mosaicism. Arch. Gynecol. Obstet., 1994, 255, 213-216.
32. TSUKAHAKA M., FUKUDA M., FURUKAWA S.: Double trisomy (48, XXX, +18). Am. J. Med. Genet., 1994, 52, 244.
33. VAN BUGGENHOUT G.J.C.M., HAMEL B.C.J., TROMMELEN J.C.M., MIELOO H., SMEETS D.F.C.M.: Down-Turner syndrome: case report and review. J. Med. Genet., 1994, 31, 807-810.
34. nd edition. New york, San Francisco, Mc Graw-Hill Inc., 1995, 123-132.
35. WILSON M.G., FUJIMOTO A., ALFI O.S.: Double autosomal trisomy and mosaicism of chromosomes No 8 and No 21. J. Med. Genet., 1974, 11(1), 96-101.