نتایج جستجو برای: 46 xy female

تعداد نتایج: 351927  

2006
Danielle R. Lucon Luciene M. Zanchetta Denise P. Cavalcanti

Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.

2007
Opas Sreshthaputra

We reported a case of a 17 year-old female, who presented with primary amenorrhea. She had normal female external genitalia and a 46,XY karyotype. Hormone profiles and laparoscopic findings confirmed a diagnosis of 46,XY gonadal dysgenesis (Swyer syndrome). Prophylactic gonadectomy was performed laparoscopically to prevent the risk of malignant germ cell tumor. Current management of this rare s...

2016
Georgette Beatriz De Paula Beatriz Amstalden Barros Stela Carpini Bruna Jordan Tincani Tais Nitsch Mazzola Mara Sanches Guaragna Cristiane Santos da Cruz Piveta Laurione Candido de Oliveira Juliana Gabriel Ribeiro Andrade Guilherme Guaragna-Filho Pedro Perez Barbieri Nathalia Montibeler Ferreira Marcio Lopes Miranda Ezequiel Moreira Gonçalves Andre Moreno Morcillo Nilma Lucia Viguetti-Campos Sofia Helena Valente Lemos-Marini Roberto Benedito de Paiva Silva Antonia Paula Marques-de-Faria Maricilda Palandi De Mello Andrea Trevas Maciel-Guerra Gil Guerra-Junior

Objective. To evaluate diagnosis, age of referral, karyotype, and sex of rearing of cases with disorders of sex development (DSD) with ambiguous genitalia. Methods. Retrospective study during 23 years at outpatient clinic of a referral center. Results. There were 408 cases; 250 (61.3%) were 46,XY and 124 (30.4%) 46,XX and 34 (8.3%) had sex chromosomes abnormalities. 189 (46.3%) had 46,XY testic...

Journal: :Science 1980
R Bernstein G C Koo S S Wachtel

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. Despite presence of the intact Y chromosome, there was no evidence of testicular differentiation in either subject. Production of H-Y antigen was suppressed in both subjects. The data suggest that development of the mammalian testis requires a normal function of the X c...

2017
Maria-Grazia Scarpa

The assignment of the sex of rearing for patients with precocious diagnosis of ovotesticular difference of sex development (OT-DSD) is a complex decision. Ovotesticular disorder or difference of sex development (OT-DSD) is a very rare congenital anomaly characterized by the simultaneous presence of both testis and ovary in the same individual. It occurs between 3 and 10% of the total DSD (1). T...

Journal: :iranian journal of public health 0
s.y. seyedna r. zakikhani

turner syndrome is one of the best known chromosome anomalies in human being, by an approximate incidence of 1/2500 female at birth. the cause is a chromosomal aberration, mainly with the karyotype 45, x. ninety six patients aged 6 to 26 years with short stature were studied for chromosomal anomalies. out of these 82 were phenotypically female and 14 phenotypically male. twenty seven showed abn...

Journal: :international journal of reproductive biomedicine 0
sayee rajangam preetha tilak

background: division of human genetics (dhg) is a referral center for karyotyping and counseling to the couples as well as to the individuals referred with bad obstetric history and infertility. materials and methods: from 1972 to 2003, overall 1666 couples and 131 female partners with bad obstetric history (boh) such as; spontaneous abortions, live births with congenital malformations and stil...

Journal: :Electronic Journal of General Medicine 2012

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