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Disorders of sexual development and abnormal early development in domestic food-producing mammals: The role of chromosome abnormalities, environment and stress factors
(2012)
The management of disorders of sexual development (DSD) in humans and domestic animals has been the subject of intense interest for decades. The association between abnormal chromosome constitutions and DSDs in domestic ...
Teratoma Associated With Testicular Tissue in a Female-Like Horse With 64,XY (SRY-Positive) Disorder of Sex Development
(2020-09-01)
A four-year-old female-like Quarter Horse was admitted for clinical evaluation because of masculinized-aggressive behavior and lack of estrous signs. On external inspection, a hypertrophied clitoris and prominent muscles ...
Marfan’S Syndrome. A Case Presentation and ReviewSíndrome de Marfan. A Propósito de un Caso
(Universidad Nacional Mayor de San Marcos, Facultad de Medicina Humana, 2001)
Autism spectrum disorder in a girl with a de novo x;19 balanced translocation
(Hindawi Publishing Corporation, 2012)
Balanced X-autosome translocations are rare, and female carriers are a clinically heterogeneous group of patients, with phenotypically normal women, history of recurrent miscarriage, gonadal dysfunction, X-linked disorders ...
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
(2013)
Abstract
Background
The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box ...
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
(2013-05-07)
Abstract
Background
The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities ...
The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia
(2013-05-07)
Abstract
Background
The association of balanced rearrangements with breakpoints near SOX9 [SRY (sex determining region Y)-box 9] with skeletal abnormalities ...
The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and Variants
(KARGER, 2011)
Background: The potential involvement of SRY in abnormal gonadal development in 45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner syndrome (TS). However, its ...
Chromosomal abnormalities in couples with reproductive disorders
(2013)
Optimization approaches, inspired by different metaphors, have recently attracted the interest of the scientist community. On the other hand, circle detection over digital images has received considerable attention from ...
Frequência de anomalias cromossômicas e análise de variações genômicas estruturais em indivíduos atendidos em um laboratório de citogenética em Cuiabá – MT
(Universidade Federal de Mato GrossoBrasilFaculdade de Medicina (FM)UFMT CUC - CuiabáPrograma de Pós-Graduação em Ciências da Saúde, 2018-03-29)
Changes in chromosomes are the cause of several disorders in humans and currently
represent, together with congenital anomalies of other origins, the second cause of
infant mortality in Brazil. Aneuploidy, a change in ...