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Topic: 46,XY

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	Genetics & IVF Institute
		Typically, females have 2 X chromosomes, while males have an X and a Y. The shorthand way to refer to a normal set of chromosomes is 46,XX for women and 46,XY for men.
		46,XY At conception, an egg containing 23 chromosomes from the mother combines with a sperm containing 23 chromosomes from the father.
		The two sets of genetic information combine so that the growing embryo has 23 pairs, or 46 total, chromosomes and is a mixture of genes from both biological parents.
	www.givf.com /geneticservices/whataregenesandchromosomes.cfm (374 words)

	Swyer's Syndrome (Complete 46, XY Gonadal Dysgenesis) - New Treatments, January 2, 2007 (Site not responding. Last check: 2007-11-02)
		Chromosomal mosaicism is the cause in most cases; however, in the last 8 years, several genes that regulate gonadal differentiation and testis determination have been discovered, and mutations in several of them have been found in association with gonadal dysgenesis.
		In 10% to 15% of cases, complete 46,XY gonadal dysgenesis is caused either by a mutation in the SRY gene or by a Yp deletion of the pseudoautosomal junction region.
		Estrogen is given from age 11 years to 46,XY patients who have no uterus and in combination with cyclical progestogen to 46,XX patients who do have a uterus.
	www.ccspublishing.com /journals4a/swyers_syndrome.htm (485 words)

	eMedicine - Gonadoblastoma : Article by Joseph L Lasky III, MD (Site not responding. Last check: 2007-11-02)
		As the germinal component overgrows the stroma, the benign characteristic histology of gonadoblastoma progresses to a locally infiltrating pattern that predisposes the patient to the malignant spread of the lesion.
		A review of the literature noted that 94% of cases of neoplasia that arise in dysgenic gonads are diagnosed when the patient is younger than 30 years; in one case, a neoplasm was diagnosed when the individual was aged 6 months.
		The diagnosis of complete androgen insensitivity/male pseudohermaphroditism (46,XY) can be difficult in the neonate period; sometimes, the only clue to suggest the diagnosis is an inguinal hernia in these females who display a normal phenotype.
	www.emedicine.com /ped/topic882.htm (4330 words)

	Abnormal Sex Differentiaton - Disorders of Sex Differentiation
		When this is the case, a 46,XY fetus will not receive the SRY signal to develop testes despite the presence of a Y chromosome.
		Additionally, 46,XY fetuses may begin to develop testes, but this development can be thwarted, and subsequently MIS and androgen production may be absent or diminished.
		Normal female external genitalia develop among 46,XY intersex patients when the genital tubercle, genital swellings, and genital folds either completely lack exposure to, or are totally incapable of responding to, male hormones.
	www.hopkinschildrens.org /specialties/categorypages/intersex/sd3.html (616 words)

	NOVA Online \| Sex: Unknown \| The Intersex Spectrum
		The testes of normal 46,XY males secrete both Müllerian Inhibiting Substance (also known as MIS or antimüllerian hormone) and masculinizing androgenic hormones, while the ovaries of a normal 46,XX female secrete neither.
		AIS affects the section of the 46,XY population that is physically unable to react to androgens.
		The occasional outcome in a 46,XY individual with this timing defect is ambiguous external genitals.
	www.pbs.org /wgbh/nova/gender/spectrum.html (773 words)

	Androgen Insensitivity Syndrome
		If the proband's disease-causing mutation cannot be detected in the DNA of the mother of the only affected individual in the family, the risk to sibs is low but greater than that of the general population because the possibility of germline mosaicism exists.
		The phenotype of offspring with a 46,XY karyotype and CAIS or MAIS is predictable.
		AR mutation can be identified), if an affected family member with a 46,XY karyotype is known to have deficient or defective androgen-binding activity in a genital skin fibroblast cell line, heterozygotes may be identified by the assay for deficient or defective androgen-building activity of single-cell clones from a genital skin fibroblast line.
	www.geneclinics.org /profiles/androgen/details.html (4790 words)

	Familial Sex Reversal: A Review -- Sarafoglou and Ostrer 85 (2): 483 -- Journal of Clinical Endocrinology & Metabolism
		A, Translocations of SRY are known to be associated with 80% of cases of 46,XX maleness.
		B, Mutations in the SRY, SOX9, SF1, and WT1 genes are associated with 46,XY gonadal dysgenesis, as are deletions of chromosome 2q, 9p, and 10q, and duplication of chromosome Xp21.
		to be on the basis of chimerism of 46,XX and 46,XY zygotes.
	jcem.endojournals.org /cgi/content/full/85/2/483 (4927 words)

	Abnormal Sex Differentiaton - Specific Syndromes of Sex Differentiation
		Complete Gonadal Dysgenesis affects 46,XY individuals and is characterized by abnormally formed gonads which were originally on the path to testis differentiation (these abnormally formed gonads are referred to as gonadal streaks), female external genitalia, Mullerian duct development, and Wolffian duct regression.
		Partial Gonadal Dysgenesis also affects 46,XY individuals, and this condition is characterized by partial testes determination usually accompanied by ambiguous external genitalia at birth.
		The condition of micropenis is thought to occur in 46,XY individuals if androgen production is insufficient for penile growth after the first part of masculinization of the external genitalia has already occurred.
	www.hopkinschildrens.org /specialties/categorypages/intersex/sd4.html (1483 words)

	UNSW Embryology-OMIM GONADAL DYSGENESIS, XY FEMALE TYPE; GDXY
		However, it was later shown that TDF and H-Y antigen map to different parts of the Y chromosome with TDF being absent and H-Y antigen being present in XY females with Y short arm deletions (Simpson et al., 1987).
		It appeared that 46,XY women had premature ovarian involution, with resulting 'streak gonads.' Families such as that of Barr et al.
		In the SRY gene in a 46,XY female, Muller et al.
	embryology.med.unsw.edu.au /OMIMfind/gonad/OMIM-306100.htm (3240 words)

	Abnormal X
		An abnormal extra band was found on the short arm of the X chromosome in a 46,XY female and in her 46,XY female fetal sibling.
		Thus in the functional absence of the testis-determining portion of the Y, the gonads of human XY embryos could be expected to initiate a program of ovarian differentiation, but could not be expected to retain a normal ovarian architecture.
		Here we describe failure of testicular differentiation in two 46,XY female sibs, both exhibiting a striking abnormality of the short arm of the X chromosome.
	www.bio.davidson.edu /courses/Molbio/restricted/01AbnX/AbnX.html (1169 words)

	Neoplastic Potential of Germ Cells in Relation to Disturbances of Gonadal Organogenesis and Changes in Karyotype -- ...
		Seminoma in the gonad of a 46,XY 17-year-old patient with pure gonadal dysgenesis.
		Gonadoblastoma nest in a 46,XY 7-year-old patient with mixed gonadal dysgenesis.
		MGCSCST was diagnosed in 3 individuals with 46,XY and in 1 with
	www.andrologyjournal.org /cgi/content/full/24/2/270 (3792 words)

	Attitudes Toward Clinical Management of Intersexuality: The Voices of 46,XY Adult Patients
		Controversies regarding the care of individuals born with intersexuality prompted a stream of adult followup studies of psychosocial and psychosexual functioning.
		Specifically, participants were asked about their satisfaction with assigned gender as well as their opinions regarding the desirability of a ‘third gender,’ and the optimal age for genital surgery.
		Attitude data were collected on 46,XY adults who had presented to a pediatric endocrinology clinic with varying degrees of genital ambiguity.
	www.gghjournal.com /volume20/3/ab04.cfm (650 words)

	Absence of Mutations Involving the Lim Homeobox Domain Gene LHX9 in 46,XY Gonadal Agenesis and Dysgenesis -- Ottolenghi ...
		Absence of Mutations Involving the Lim Homeobox Domain Gene LHX9 in 46,XY Gonadal Agenesis and Dysgenesis -- Ottolenghi et al.
		but bilateral agonadism, one having a 46,XY and the other a 46,XX karyotype, who were born to a consanguineous marriage (9).
		is characterized by 46,XY karyotype in the presence of unilateral
	jcem.endojournals.org /cgi/content/full/86/6/2465 (2954 words)

	Diagnosis Of 46 XY Females By Dermatoglyphics (Site not responding. Last check: 2007-11-02)
		This is because the TFRC (total finger ridge count) is affected by the sex chromosome complement.
		Thirty one 46XY females ie patients with male genotype but a female phenotype were recruited for the study with 30 male and 30 female students recruited as controls.
		Thus in the present study, the dermatoglyphics of 46XY females partly resembled Turner’s/ Klinefelter’s syndrome patients.
	www.indegene.com /Gen/Jour/indJour_JIMA_Sum_01-08-2001_1.asp (371 words)

	OCCURRENCE OF VIRILIXATION SIGNALS IN A FEMALE MARMOSET Leontopithecus chrysomelas (CALLITRICHIDAE; PRIMATES) WITH ...
		This case is the first documented report of natural chimerism in marmosets without the freemartin condition.
		The chromosome complement found was represented by two cell lineages with 80% 46,XX(fig.2) and 20% 46,XY (fig.3).
		During the surgical procedure the presence of ovaries, uterus and uterine horns with a normal female appearance was observed.
	www.isrvma.org /article/60_3_2.htm (1637 words)

	Androgen receptor gene mutations in 46,XY females with germ cell tumours -- Chen et al. 14 (3): 664 -- Human ...
		Androgen receptor gene mutations in 46,XY females with germ cell tumours -- Chen et al.
		Androgen receptor gene mutations in 46,XY females with germ cell tumours
		A karyotype was performed, and it revealed a 46,XY complement.
	humrep.oxfordjournals.org /cgi/content/full/14/3/664 (3290 words)

	Ambiguous Genitalia - Children's Hospital of Philadelphia
		The 23rd pair determines our gender; females have two X chromosomes, while males have one X and one Y chromosome.
		The chromosome complement in humans is written: 46,XX, normal female or 46,XY, normal male.
		There is a gene located on the short arm (top half) of the Y chromosome, called "SRY," which, if present, will cause the undifferentiated gonad to become testes (indicating a male) around the sixth week of fetal life.
	www.chop.edu /consumer/your_child/wellness_index.jsp?id=-9051 (1262 words)

	eMedicine - Gonadoblastoma : Article Excerpt by: Joseph L Lasky III, MD (Site not responding. Last check: 2007-11-02)
		Gonadoblastoma is a rare benign tumor that has the potential for malignant transformation and affects a subset of patients with intersex disorders.
		The karyotype of these individuals is most often 46,XY; 45,X/46,XY; or 45,XO.
		Patients with mixed gonadal dysgenesis (45,X/46,XY) have a 55% incidence, while the incidence of developing gonadoblastoma in individuals with androgen insensitivity/male pseudohermaphrodism (46,XY) has be.....
	www.emedicine.com /ped/byname/gonadoblastoma.htm (684 words)

	Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses -- Vialard et al. 39 (7): ...
		Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses -- Vialard et al.
		to be responsible for 46,XY gonadal dysgenesis associated with
		Flejter WL, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S. A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.
	jmg.bmj.com /cgi/content/full/39/7/514 (1687 words)

	Swyer syndrome
		Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital, Keelung, Taiwan, R.O.C. 46,xy pure gonadal dysgenesis is a rare disorder, which is characterized by female phenotype, infantile female external genitalia, deficient secondary sexual development, hypoplastic uterus and fallopian tubes, and streak gonads.
		According to the high risk of germ cell tumor occurrence in 46,XY gonadal dysgenesis, bilateral salpingo-oophorectomy and total hysterectomy were performed.
		Her father's sister showed 46,XY female gonadal dysgenesis (Swyer's syndrome) as a result of a point mutation in the SRY gene on her Y chromosome.
	www.lymphedemapeople.com /thesite/swyer_syndrome.htm (4078 words)

	46,XX/46,XY at amniocentesis in a fetus with true hermaphroditism -- AMOR et al. 36 (11): 866 -- Journal of Medical ...
		The finding of a mixture of both 46,XX and 46,XY cells in amniotic fluid culture has been frequently described.
		The finding of a mixture of 46,XX and 46,XY cells at amniocentesis has been reported to occur at a frequency of about 1.5
		In the sixth case, an amniocentesis performed at 16 weeks' gestation showed 46,XX and 46,XY cells in a 4:1 ratio.
	jmg.bmj.com /cgi/content/full/36/11/866 (1904 words)

	Production of testosterone and estrogen in vitro by gonadal tissue from a 46,XY true hermaphrodite with gonadal failure ... (Site not responding. Last check: 2007-11-02)
		Production of testosterone and estrogen in vitro by gonadal tissue from a 46,XY true hermaphrodite with gonadal failure and gonadoblastoma -- Quigley et al.
		A phenotypic female patients with 46,XY true hermaphroditism and clitoromegaly was found at laparotomy to have normal mullerian structures with a right streak gonad and a left dysgenetic ovotestis that contained a gonadoblastoma.
		Karyotypes of peripheral lymphocytes and cells from labial skin and both gonads were all 46,XY, so an unrecognized mosaic or chimera was unlikely.
	www.greenjournal.org /cgi/content/abstract/58/2/253 (225 words)

	Molar DNA in Maternal Serum in a Case of 46,XY Heterozygous Complete Hydatidiform Mole Coexisting with a 46,XX Twin ...
		Molar DNA in Maternal Serum in a Case of 46,XY Heterozygous Complete Hydatidiform Mole Coexisting with a 46,XX Twin Live Fetus -- Hyodo et al.
		Molar DNA in Maternal Serum in a Case of 46,XY Heterozygous Complete Hydatidiform Mole Coexisting with a 46,XX Twin Live Fetus
		from the 46,XY hydatidiform mole in the maternal serum.
	www.clinchem.org /cgi/content/full/51/3/676 (1195 words)

	University at Stony Brook Professor Elof Carlson (Site not responding. Last check: 2007-11-02)
		A defect occurs in the testes of an 46,XY embryo and the Leydig cells fail to produce testosterone.
		Predict the consequences if a 46,XY zygote has an autosomal recessive mutation that prevents the formation of 5 alpha reductase:
		Predict the consequences if a 46,XY zygote is homozygous for an X-linked recessive gene that prevents formation of receptors to testosterone
	www.sinc.sunysb.edu /Class/bio300/00Exam2.htm (1220 words)

	Androgen insensitivity syndrome - Wikipedia, the free encyclopedia
		[edit] Early postnatal effects of testosterone in 46,XY infants
		Animal research suggests a contribution to brain differentiation.
		At puberty, many of the early physical changes in both sexes are androgenic (adult-type body odor, increased oiliness of skin and hair, acne, pubic hair, axillary hair, fine upper lip and sideburn hair).
	en.wikipedia.org /wiki/Complete_Androgen_Insensitivity_Syndrome (4788 words)

	Sex or Gender Assignment (Site not responding. Last check: 2007-11-02)
		… “pure XY gonadal dysgenesis,” is the name given to a condition in which individuals possess a 46XY karyotype and female external genitalia.
		The present case report is a long - term psychosexual follow - up on a second case of ablatio penis in a 46,XY male.
		During an electrocautery circumcision at the age of 2 months, the patient sustained a burn of the skin of the entire penile shaft, and the penis eventually sloughed off.
	ibis-birthdefects.org /start/hermaphr.htm (5090 words)

	46,XY (Site not responding. Last check: 2007-11-02)
		The playoffs dominated my posts, and with the season over, I really don't have much to say or comment on.
		I guess what I'm saying is that I think that 46,XY in it's current incarnation has run it's course.
		Like a sitcom that limped on a little too long, I think I'm going to call it quits on blogging in this style.
	www.rightfieldron.blogspot.com (1990 words)

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