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*  Melvin M. Grumbach
... the function of the human sex chromosomes; and disorders of sexual development. After graduating from New Utrecht High School ... sex determination and differentiation (and their disorders) and disease-causing pathology. He was a past president of the ... for his research and writing on the effect of hormones and the central nervous system on growth and puberty and their disorders ... made many seminal contributions the understanding of pediatric endocrinology including extensive studies on the development and ...
*  Gender reveal
The tests are not perfectly accurate, and in cases of sex chromosome disorders or other abnormalities of development their ... Some[weasel words] argue that the term "gender reveal" is a misnomer, as all available tests measure the child's sex, which is ... Previously, the sex of the unborn baby was determined via obstetric ultrasonography between 16-20 weeks. ... However, it is typically held earlier, near the moment, formerly private, when parents learn the baby's predicted sex. Gender ...
*  The Focus Foundation
Sex Chromosome Disorders: A Very Common but Rarely Diagnosed Disorder appeared as a Special Feature May/June 2011 in the online ... Samango-Sprouse supported the efforts in content development and delivery as well as participating in recruitment, training ... NFC gfcvbhf The Foundation attempts to increase awareness about sex chromosome disorders in order to help children with these ... practitioners often receive insufficient information about sex chromosome disorders, and don't often test for X & Y Variations ...
*  Creatine transporter defect
... semantic-pragmatic language disorder, oral dyspraxia, extrapyramidal movement disorder, constipation, absent speech development ... The SLC6A8 gene is located on the short arm of the sex chromosome, Xq28. Hemizygous males with CTD express speech and behavior ... Furthermore, a family history of X-linked intellectual disability, developmental coordination disorder, and seizures is ... CTD is an X-linked disorder caused by mutations in the SLC6A8 gene. ...
*  History of intersex surgery
"Disorders of sex development" (DSD). More specifically, these terms refer to "congenital conditions in which development of ... with female chromosomes, and ovaries and uterus inside, and we recommend that you change your sex to match your chromosomes and ... "Surgery in disorders of sex development (DSD) with a gender issue: If (why), when, and how?". Journal of Pediatric Urology. 12 ... A 2016 paper on "Surgery in disorders of sex development (DSD) with a gender issue" repeated many of the same claims, but ...
*  Polysomy
Some of the most frequent genetic disorders are abnormalities of sex chromosomes, but polysomies rarely occur. 49,XXXXY ... During egg or sperm development the 21st chromosome does not separate during either the egg or sperm development. The end ... X chromosome. Polysomy of sex chromosomes is caused by successive nondisjunctions in meiosis I and II. In squamous cell ... Chromosome 1 may contain a gene responsible for tumor development and lead to changes in the karyotype, including fusion of the ...
*  Turner syndrome
Especially in mosaic cases of Turner syndrome that contains Y-chromosome (e.g. 45,X/46,XY) due to the risk of development of ... Ford CE, Jones KW, Polani PE, De Almeida JC, Briggs JH (1959). "A sex-chromosome anomaly in a case of gonadal dysgenesis ( ... Approximately one-third of all women with Turner syndrome have a thyroid disorder. Usually it is hypothyroidism, specifically ... Other human sex chromosome aneuploids: XYY syndrome, Klinefelter syndrome (XXY), Triple X syndrome, Dermatoglyphics, Noonan ...
*  Patricia Jacobs
"Prenatal diagnosis of sex chromosome abnormalities". In Milunsky, Aubrey; Milunsky, Jeff M. Genetic disorders and the fetus: ... Pubertal development is normal and these men are usually fertile. "Professor Patricia Jacobs , Medicine , University of ... Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ... ISBN 1-4051-9087-6. The addition of a Y chromosome to a normal male chromosome constitution does not produce a discernible ...
*  XYY syndrome
Most 47,XYY males have normal sexual development and have normal fertility. In contrast to the other common sex chromosome ... "Prenatal diagnosis of sex chromosome abnormalities". In Milunsky, Aubrey; Milunsky, Jeff M. Genetic disorders and the fetus: ... In the wake of the establishment of the normal number of human chromosomes, 47,XYY was the last of the common sex chromosome ... Harper, Peter S. (2006). "The sex chromosomes". First years of human chromosomes : the beginnings of human cytogenetics. ...
*  Testis-determining factor
XX Testicular Disorder of Sex Development OMIM entries on 46,XX Testicular Disorder of Sex Development Genes, sry at the US ... Monotremes lack SRY and some of their sex chromosomes share homology with bird sex chromosomes. SRY is a quickly evolving gene ... "Bird-like sex chromosomes of platypus imply recent origin of mammal sex chromosomes". Genome Res. 18 (6): 965-73. doi:10.1101/ ... "Analysis of the sex-determining region of the Y chromosome (SRY) in sex reversed patients: point-mutation in SRY causing sex- ...
*  Severe achondroplasia with developmental delay and acanthosis nigricans
Autosomal means that the gene responsible for the mutation and disorder is found on a non-sex chromosome and that either the ... This gene codes for the instructions of a protein that is integral in the development and maintenance of bone and brain tissue ... Fortunately the disorder is very rare and has only been described in a few number of cases worldwide. While the disorder can be ... This disorder is one that affects bone growth and is characterized by skeletal, brain, and skin abnormalities. Those affected ...
*  Sex change
... the relative activity of the sex hormones will favour development of female characteristics. The sex chromosomes work by coding ... Incomplete AIS can include other disorders such as Reifenstein syndrome which is associated with breast development in men. ... Sex in humans is usually determined by four factors: Chromosomes Gonads (Ovaries and/or testicles) Hormone status Primary sex ... This causes male sex characteristics to appear early (or inappropriately). Genetic males (with one X and one Y chromosome) with ...
*  45,X/46,XY mosaicism
... is a rare disorder of sex development in humans associated with sex chromosome aneuploidy and mosaicism of the Y chromosome. ... of the Y chromosomes, deletions of Y chromosome or translocations of Y chromosome segments. These rearrangements of the Y ... Because of the presence of dysgenetic gonadal tissue and Y chromosome material, there is a high risk of the development of a ... Psychomotor development is normal. As the gonads may not be symmetrical, the development of the Müllerian duct and Wolffian ...
*  X chromosome
Cognitive development of children with sex chromosome abnormalities. San Diego: College Hill Press. pp. 175-201. "Triple X ... Genetic disorders that are due to mutations in genes on the X chromosome are described as X linked. The X chromosome carries ... The X chromosome is one of the two sex-determining chromosomes (allosomes) in many organisms, including mammals (the other is ... It is a part of the XY sex-determination system and X0 sex-determination system. The X chromosome was named for its unique ...
*  Lupus erythematosus
The influence of sex chromosomes and environmental factors are also noteworthy. Usually, these factors contribute to Lupus by ... tumor necrosis factor alpha also seems to play a role in the development of photosensitivity. It is typically believed that ... Lupus is usually influenced by gene polymorphisms, 30 of which have now been linked with the disorder. Some of these ...
*  XXYY syndrome
... is a sex chromosome anomaly in which males have an extra X and Y chromosome. Human cells usually contain two sex ... symptoms Autism spectrum disorders Tall Scoliosis Clinodactyly Low muscle tone Flat feet Sterility Delayed sexual development ... Nondisjunction may cause a sperm cell to gain two extra sex chromosomes, resulting in a sperm cell with three sex chromosomes ( ... the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called ...
*  Ectrodactyly-ectodermal dysplasia-cleft syndrome
22 autosomal chromosomes and one sex chromosome. As stated above, EEC syndrome is an autosomal dominant disorder. This means ... Because these two events occur at roughly the same time in embryological development, abnormalities found in this syndrome can ... A normal human karyotype includes 22 pairs of autosomal or non-sex chromosomes and one pair of sex chromosomes, constituting a ... Chromosome 19, within the region of D19S894 and D19S416 has been postulated as the locus for the abnormalities found in EEC ...
*  Allan-Herndon-Dudley syndrome
... one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is ... Allan-Herndon-Dudley syndrome is a rare X-linked inherited disorder of brain development that causes moderate to severe ... In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are ... A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, ...
*  Hypohidrotic ectodermal dysplasia
... one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is ... Before birth, these disorders result in the abnormal development of structures including the skin, hair, nails, teeth, and ... In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are ... A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, ...
*  Amelogenin
... located on the X and Y chromosomes at Xp22.1-Xp22.3 and Yp 11.2 [5]. The amelogenin gene's location on sex chromosomes has ... Mutations in AMELX can cause amelogenesis imperfecta, a disorder of tooth enamel development. Amelogenin at the US National ... Differences between the X chromosome and Y chromosome versions of the amelogenin gene (AMELX and AMELY respectively) enable it ... In response the authors suggested that while the amelogenin sex test may be accurate in general, other Y chromosome markers ...
*  XX gonadal dysgenesis
... syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development ... eye disorder). It has been suggested to be a new type of syndrome. Gonadal dysgenesis Log In Problems Aittomäki, K; Lucena, JL ... Because of the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex ... In both sexes sensorineural deafness occurs but in females ovarian dysgenesis also occurs. XX gonadal dysgenesis is a type of ...
*  Succinic semialdehyde dehydrogenase deficiency
... rather than the sex-linked 23rd chromosome. Being a recessive disorder, the disease can only be inherited from both parents ... gross motor development Delayed mental development Delayed fine motor skill development Delayed speech and language development ... a Disorder of GABA Metabolism". Brain and Development. 33 (9): 796-805. doi:10.1016/j.braindev.2011.04.013. Shinka, T.; Ohfu, M ... Detection of the disorder is possible with an organic acid analysis of the urine. Patients with SSADH deficiency will excrete ...
*  Aicardi syndrome
The few boys that have been identified with Aicardi syndrome have proved to have 47 chromosomes including an XXY sex chromosome ... of the retina that are quite specific to this disorder; [optic nerve coloboma]]; and The development in infancy of seizures ... Aicardi syndrome is theorized to be caused by a defect on the X chromosome as it has thus far only been observed in girls or in ... This disorder was first recognized as a distinct syndrome in 1965 by Jean Aicardi, a French pediatric neurologist and ...
*  Sex verification in sports
... that athletes born with a disorder of sex development and raised as females be allowed to compete as women remains appropriate ... XY chromosomes, or sex hormone levels, to determine whether an athlete is unambiguously a woman or a man. Fetuses start out as ... Initially, sex verification took the form of physical examinations. It subsequently evolved into chromosome testing, and later ... Sex verification in sports (also known as gender verification, or loosely as gender determination or a sex test) is the issue ...
*  Human genetics
Examples of autosomal recessive disorders are albinism, cystic fibrosis. X-linked genes are found on the sex X chromosome. X- ... Study of human genetics can be useful as it can answer questions about human nature, understand the diseases and development of ... and are called the homogametic sex. Males have two distinct sex chromosomes (XY), and are called the heterogametic sex. Sex ... the sex of an individual is determined by a pair of sex chromosomes (gonosomes). Females have two of the same kind of sex ...