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Borgaonkar DS. Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1975-.
Chromosomal Variation in Man: A Catalog of Chromosomal Variants and Anomalies: Online NLM Version [Internet].
Show details- de Grouchy J, Thibaud E, Turleau C, Roubin M, Rose F, Cachin O, Rappaport R: Femme 45,X/46,X,del(X)(q25) accouchee d''une fille normale 46,XX. Ann. Genet. 24:229-230, 1981. [PubMed: 6977304]Mother with a mos45,X/46,X,del(X)(q25) karyotype gave birth to a normal 46,XX daughter.Aberration: Terminal deletionPositive band
- Fitch N, Victor J de S, Richer C L, Pinsky L, Sitahal S: Premature menopause due to a small deletion in the long arm of the X chromosome: A report of three cases and a review. Am. J. Obst. Gynecol. 142:968-972, 1982. [PubMed: 7041651]46,X,del(X)(pter -> q25:).Aberration: Terminal deletionIndex Terms: MenopausePositive band
- Fryns J P, Kleczkowska A, Petit P, Van Den Berghe H: Fertility in patients with X chromosome deletions. Clin. Genet. 22:76-79, 1982. [PubMed: 7172480]Case 4, V. G. G., 31 years.46,X,del(X)(q25).Aberration: Terminal deletionPositive band
- Hodgson S V, Heckmatt J Z, Hughes E, Crolla J A, Dubowitz V, Bobrow M: A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. AJMG 23:837-847, 1986. [PubMed: 3953680]
Okabe I, Attree O, Bailey L C, Nelson D L, Nussbaum R L: Isolation of cDNA sequences around the chromosomal breakpoint in a female with Lowe syndrome by direct screening of cDNA libraries with Yeast artificial chromosomes. J. Inher. Metab. Dis. 15:526-531, 1992. [PubMed: 1528013]
Okabe I, Attree O, Nelson D L, Bailey L C, Nussbaum R L: A candidate gene for Lowe syndrome. AJHG 49 (Suppl.):415, 1991.
Reilly D S, Nussbaum R L: Parental origin of de novo translocation in a patient with both an inherited and a de novo chromosome translocation. AJMG 37:429-430, 1990. [PubMed: 2260578]Patient H.O.Patient: 46,XX,der(14)der(17)t(14;17)(q24;q23)pat;t(X;3)(q25;q27).&"Father: 46,XY,t(14;17)(q24;q23)."The de novo X;3 translocation was paternal in origin.Aberration: Reciprocal translocationMIM#: 309000Index Terms: Lowe syndromePositive band - Kalz-Fuller B, Sleegers E, Schwanitz G, Schubert R.: Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations. Clin. Genet. 55:362-366, 1999. [PubMed: 10422808]Patient 3:46,X,t(X;1)(q25;q31)de novoA female patient, 26 years old, had short stature and was infertile.Aberration: Simple translocation
- Katayama K P, Roesler M R, Dungar C F, Mattingly R F: Gonadoblastoma in a patient with an isodicentric X chromosome. Clin. Genet. 24:355-358, 1983. [PubMed: 6652946]45,X,idic(X)(pter -> q25::q25 -> pter).Aberration: Dicentric chromosomeIndex Terms: GonadoblastomaPositive band
- Naguib K K, Al-Awadi S A, Sundareshan T S, Jeryan L A, Bahar A M, Hamdan M R: "Fertility with deletion Xq25: report of three cases; possible exceptions for critical region hypothesis." Fert. Ster. 49:917-919, 1988. [PubMed: 3360183]46,X,del(X)(pter -> q25:).Mother and two daughters are reported.Aberration: Terminal deletionChromosomal Aneuploidy: Xq-Positive band
- Simpson J L: Genetic source of femininity. Fert. Ster. 56:1206-1207, 1991. [PubMed: 1743350]
Veneman T F, Beverstock G C, Exalto N, Mollevanger P: Premature menopause because of an inherited deletion in the long arm of the X-chromosome. Fert. Steril. 55:631-633, 1991. [PubMed: 2001764]
Veneman T F, Exalto N: Reply to the authors. Fert. Ster. 56:1207, 1991.46,X,del(X)(q25 -> qter)mat.&46,X,del(X)(pter -> q25:)mat.Patients experienced menopause at ages 28 and 31 years respectively.46,X,der del(q25)mat.Dr. Simpson''s patient was ascertained during prenatal cytogenetic testing for advanced maternal age but later experienced premature ovarian failure.Aberration: Terminal deletionChromosomal Aneuploidy: Xq-Index Terms: Menopause,Premature ... ovarian failurePositive band - Waters J J, Campbell P L, Crocker A J M, Campbell C M.: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum. Genet. 108:318-327, 2001. [PubMed: 11379878]Case P81, 90-1166=46,X,t(X;11)(q25;p11.2).Aberration: Simple translocationNo band
- Wyandt H E, Grierson H L, Sanger W G, Skare J C, Milunsky A, Purtilo D T: Chromosome deletion of Xq25 in an individual with X-linked lymphoproliferative disease. AJMG 33:426-430, 1989. [PubMed: 2801783]Pedigree No. 43-V-3.46,del(X)(q25),Y.Patient was 38 years old and comes from a family with XLP.This finding may be helpful in the precise localization, cloning, and sequencing of the gene causing XLP.Aberration: Interstitial deletionMIM#: 308240Chromosomal Aneuploidy: Xq-Positive band
- 0Xq250 - Chromosomal Variation in Man0Xq250 - Chromosomal Variation in Man
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