Coexistence of inverted Y, chromosome 15p+ and abnormal phenotype

Genetic Counseling

Volumn 10, Issue 2, 1999, Pages 163-170

  Acar, H ^a,b   Cora T ^a   Erkul, I ^a  

^a SELCUK UNIVERSITY   (Turkey)

^b Sakarya Mah Serbetli Sok Erkam   (Turkey)

Author keywords

Abnormal phenotype; Chromosome 15p+; FISH; Pericentric inversion of Y chromosome

Indexed keywords

4',6 DIAMIDINO 2 PHENYLINDOLE;

ARTICLE; CASE REPORT; CHROMOSOME 15P; CHROMOSOME BANDING PATTERN; CHROMOSOME NOR; CHROMOSOME PAINTING; CYTOGENETICS; DNA PROBE; FLUORESCENCE IN SITU HYBRIDIZATION; HETEROZYGOTE; HUMAN; HUMAN CELL; INFANT; MALE; PERICENTRIC CHROMOSOME INVERSION; PHENOTYPE; Y CHROMOSOME;

CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; CYTOGENETICS; DNA PROBES; DNA, SATELLITE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INVERSION, CHROMOSOME; MALE; PHENOTYPE; Y CHROMOSOME;

EID: 0345161543     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. ACAR H., DUNDAR M., STEWART J.: Identification of classic and complex t(15;17) and/or RARa/PML gene fusion in APL by cytogenetic and dual color-FISK techniques. Proc. Natl. Sci. Council. 1997, 21(2), 54-60
2. ANDERSON M., PAGE D.C., PETTAY D., SUBRT I., DE GROUCHY J., DEHA C.: Y:autosome translations and mosaicism in the aetiology of 45,X maleness:assigment of fertility factor to distal Yq11. Hum. Genet., 1988, 79, 2-7.
3. BARDONI B., ZUFFARDI O., GUIOLI S., BALLABIO A., SIMII P., CAVALLI P., GRIMOLDI M.G., FRACCARO M., CAMERINO G.: A deletion map of the human Yq11 region: implication for the evaluation of the Y chromosome and tentative mapping of a locus involved in spermatogenesis. Genomics, 1991, 11, 443-451.
4. BENSTEIN R., WADEE A., ROSENDORFF J., WESSELS A., JENKINS T.: Inverted Y chromosome polymorphism in the Gujerati Muslims Indian population of South Africa. Hum. Genet., 1986, 74, 223-229.
5. CHANDLEY A.C., GOSDEN J.R., HARGREAVE T.B., SPOWARD G., SPEED R.M., MCBEATH S.: Deleted Yq in the sterile son of a man with a satellite Y chromosome (Yqs). J. Med. Genet., 1989, 26, 145-153.
6. DONEDA L., MAGNANI I., TIBILETTI M.G., DALPRA L. LARRIZA L.: Different phenotypes in two cases of an apparenly identical familial (Yq;13p) translocation. Hum. Reprod., 1992, 7(10), 495-499.
7. FITCH N., RICHER C., PINSKY L., KAHN A.: Deletion of the long arm of the Y chromosome and rewiew of chromosome abnormalities. Am. J. Med. Genet., 1985, 20, 31-42.
8. HAUSLER G., GUCCHEV Z., KOHLER I., SCOBER E., HAAS O., FRISCH H.: Constitutional chromosome, anomalies in patients with cerebral gigantism (sotos syndrome). Klin. Pediat., 1993, 205, 351-353.
9. IWAMATO T., NAKAHORI Y., NAKAGOME Y., YAJIMA M., SATOMI Y., OSADA T.: Pericentric inversion with a minute deletion of the Y chromosome in a severely cligozoospermic man. Clin. Genet., 1995, 48, 272-274.
10. KOBAYASHI K., MIZOKA K., HIM A., KOMAKI R., TOMITA K., MATSUSHITA I., NAMIKI M., IWAMOTO T., TAMURA S.. MINOWADA S., NAKAGOME Y.: PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatocenesis. Hum. Mol. Genet., 1994, 3, 1665-1667.
11. KRISHNA-MURTHY D.S., MURTHY S.K., PATEL J.K., BANKER G.N., SHAH V.C.: Inherited pericentric inversion of Y-chromosome with trisomy 21. A case report. Ann. Genet., 1989, 32, 47-51.
12. LAHN B.T., MA N., BERG WR., STRATTON R., SURTIZ U., PAGE D.C.: Xq-Yq interchange resulting in supernormal X-linked gene expression in severely retarded males with 46,XYq- karyotype. Nat. Genet., 1994, 8, 243-250.
13. LOPEZ M., TORRES L., MENDEZ J.P., CERVANDEZ J.P., PEREZ-PALACIOS G., ERICSON R.P., ALFARO G., KOFMAN-ALFARO S.: Clinical traits and molecular findings in 46.XX males. Clin. Genet., 1995, 48, 29-34.
14. MA K., SHARKEY A., KIRSCH S., VOGT P., KEIL R., HARGREAVE T.B., MCBEATH S., CHANDLEY A.C.: Towards the molecular localization of the AZF locus: mapping of microdeletions in azoospermic men within 14 subinterval 6 of the human Y chromosome. Hum. Mol. Genet., 1992, 1, 29-33.
15. MUM S., MALONI B., TERRELLL J., SRIVASTASTAV A., SCHLESSINGER D.: Evolutionary features of the 43-Mb Xq21.3 XY homology region revealed by a map at 60-kb resolution. Genome Res., 1997, 7, 307-314.
16. NAGAFUCHI S., NAMIKI M., NAKAHORI Y., KONDOH N., OKUYAMA A., NAKAGOMA Y.: A minute deletion of the Y chromosome in men with azoospermia. J. Urol., 1993, 15, 1155-1157.
17. NAKAGOME Y., SASAKI M., MATSUI I., KAWAZURA M., FUKUYAMA Y.: A mentally retarded boy with a minute Y chromosome. J. Pediat., 1965, 67(6), 1163-1167.
18. PAGE D.C.: Hypothesis: a Y-chromosomal gene causes gonadoblastoma in dysgenetic gonads. Development. 1987, 101, 151-155.
19. PINKEL D., STRAUME T., GRAY J.M.: Cytogenetic analysis using high-sensivity, fluorescence hybridization. Proc. Natl. Acad. Sci. USA., 1986, 83, 2943-2938.
20. RADHAKRISHNA U., SHAH V.C., CHINOY N.J.: Unilateral gonodal dysgenesis with both testis and fallopian tube on the same side in a 45,X/46,X,inv(Y) mosaic male. Jinrui Idengaku. 1991, 36, 351-355.
21. SCELEMAN F., VAN DER AUSWERE B., MANGCEISCHCTS K.: Identification and characterisation of normal length nonfluorescent Y chromosomes: cytogenetic analysis. Southern hyridization and non-isotopic in situ hybridization. Hum. Genet., 1990, 85, 569-575.
22. SHINOHARA M., MINOVADA S., ASO Y., YAMADA K., NAKAHORI Y., TAMURA K., NAKAGOME YA.: A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis. Hum. Genet., 1991, 86, 442-444.
23. SINCLAIR A.H., BERTA P., PALMER M.S., HAWKINS J.R., GRIGGITHS B.L., SMITH M., FOSTER J., FRISCHAUF A., LOVELL-BADGE R.A., GOODFELOW P.N.: A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. 1990, 346, 240-244.
24. SOLOMON I.L., HAMM C.W. GREEN O.C.: Chromosome studies on testicular tissue cultures and blood leucocytes of a male previously reported to have no Y Chromosome. N. Eng. Med., 1964, 271, 586-465.
25. SPURDLEA., JENKINS T.: The inverted Y chromosome polymorphism in the Gugarats muslim Indian population at South Africa has a single origin. Hum. Hered., 1992, 42, 330-332.
26. TSUCHIYA K., REIJO R., PAGE D.C., DISTECHE C.: Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome. Am. J. Hum. Genet., 1995, 57, 1400-1407.
27. VERMA R.S., RODRIGUEZ J., DOSIK H.: The clinical significance of pericentric inversion of the human Y chromosome: a rare «third» type of heteromorphism. J. Hered., 1982, 73, 236-238.
28. WERNER W., HERMANN F.N.: Analysis of a familial 15p+ polymorphism: exclusion of Y/15 translocation. Clin. Genet., 1984, 26, 204-208.
29. WILKINSON T.A., CROLLA J.A.: Molecular cytogenetic characterization of three familial cases of sattelited Y chromosomes. Hum. Genet., 1993, 91, 389-391.
30. YUNIS E., GARCIA-CONTI F.L., DE CABERELLO O.M.T., GIRALDO A.: Yq deletion, aspermia, and short stature. Hum. Genet., 1977, 39, 117-122.