De novo dup(X)(q22.1q25) in a girl with an abnormal phenotype
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Abstract:
Duplication of a portion of Xq has been observed in males with abnormalities. In some cases, their mothers or even grandmothers had the same duplication but did not show any phenotypic abnormalities. However, a few cases of females with a de novo Xq duplication do present some abnormalities. We describe a 16-month-old girl with short stature, motor delay with hypotonia, scoliosis, right hemiatrophy, and ptosis of the right eye, with an Xq duplication. The duplicated region is read dir dup(X)(q22.1q25). Am. J. Med. Genet. 87:302–305, 1999. © 1999 Wiley-Liss, Inc.Keywords:
dup
Trisomy
Turner syndrome has an incidence of 1 in 2500 female births. Clinical signs such as short stature, lymphoedema and delayed puberty, are common reasons for screening for Turner syndrome. We present a 10-year-old female with short stature. The diagnosis was confirmed by the patient’s karyotype (45, XO). Physicians must be able to suspect Turner syndrome in order to make an early diagnosis, refer, and manage affected children for optimal growth and development. Keywords: Turner syndrome, short stature, Growth hormone
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SHOX gene is located on the edge of each short/p arm sex chromosome called the pseudoautosomal region-1 (PARI) plays as a dindomental role on controling chondrocyte differentation and apoptosis in the growth plate. Longitudinal growth is determined by environmental, hormonal and genetic factors. Short stature is defiened as a stature is defined as a standing height below the third percentile according to Tunner et al. Short stature affects approximately 2% of Children. Tuner syndrome is the most common genetic disorder in female characterized by the absence od all or post of a normal second X chromasome, effecting 1:2500 live-born female babies Short stature and avarian failure is the main clinical feature. The objective of this study is to elucidate the implication of SHOX gene in dhort of Turner Syndrome and its variant. Puposive sampling was performed to recruit female with short stature after informed consent ogreement. Female with growth teratement history and chronic diseases was exluded from this study. Cytogenetics testting was done for all sample by G-banding method, in routine karyotyping. We report 9 female with short stature which cytogenetically and clinically diagnosed as Turner Syndrome Four cases is classic Turner syndromr with standing height is below third percentile, there cases are 45,X/46,X, i(Xq) with standing height is below third percentile, one case is 46,XX45,X (80%) with standing height is below third percentile, and the rest is 46,XX/45,X(20%) with. SHOX gene haplonsufficiency is strongly indicated the cause of shoet stature in Turner Syndrome
Pseudoautosomal region
Idiopathic short stature
Tall Stature
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Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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Haploinsufficiency
Oxandrolone
Idiopathic short stature
Menarche
Dwarfism
Tall Stature
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Trisomy
dup
Concomitant
Partial Trisomy
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Girl
Turner's syndrome
Long arm
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Turner syndrome is the most common chromosomal abnormality affecting women with a prevalence of 1 in 2000 live births. Genetics show that most of the patients have monosomy 45 XO and the commonest phenotype is short stature. Growth hormone deficiency is uncommon but consensus statements have endorsed GH treatment for short girls with Turner syndrome. Case report: A 15 year old Turner syndrome patient who had delayed evaluation for short stature was noticed to be short for age, with a height of 125 cm (-5SDS). Growth hormone stimulation test revealed growth hormone deficiency and she was commenced on growth hormone therapy. Conclusion: Simple and regular measurement of children’s height with chart plotting is necessary to pick up children who have short stature. Growth hormone treatment early in the course of management of a child with Turner syndrome may help achieve normal final height. Keywords: Turner’s syndrome, short stature, growth hormone deficiency, growth hormone treatment, Nigeria
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Monosomy
Idiopathic short stature
Abnormality
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The objective was to investigate whether cases of fetal trisomy 18 and Turner syndrome with and without hydrops were associated with alterations in the second-trimester levels of maternal serum inhibin A. Twenty-one cases of trisomy 18, 10 cases of Turner syndrome without hydrops and 12 cases of Turner syndrome with hydrops were identified. Five control samples were matched to each case for date of sample collection and completed week of gestation. Inhibin A levels were modestly, but significantly reduced in cases of trisomy 18 (median=0·88 MoM) and Turner syndrome without hydrops (median=0·64 MoM). In contrast, inhibin A levels were markedly increased in cases of Turner syndrome with hydrops (median=3·91 MoM). These data for Turner syndrome are similar to those for human chorionic gonadotropin (hCG). The addition of inhibin A to multiple marker screening (alpha-fetoprotein, unconjugated oestriol and hCG) resulted in a median increase in the Down syndrome risk of 2·6-fold in cases of Turner syndrome with hydrops. The addition of inhibin A to multiple marker Down syndrome screening programmes will be likely to enhance the detection of fetal Turner syndrome with hydrops, but will not contribute substantially to the detection of fetal trisomy 18. Copyright © 1998 John Wiley & Sons, Ltd.
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Human chorionic gonadotropin
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Abstract Trisomy 12 mosaicism was found in a 36‐year‐old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a “complete” trisomy 12 in a liveborn individual.
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The objective was to investigate whether cases of fetal trisomy 18 and Turner syndrome with and without hydrops were associated with alterations in the second-trimester levels of maternal serum inhibin A. Twenty-one cases of trisomy 18, 10 cases of Turner syndrome without hydrops and 12 cases of Turner syndrome with hydrops were identified. Five control samples were matched to each case for date of sample collection and completed week of gestation. Inhibin A levels were modestly, but significantly reduced in cases of trisomy 18 (median=0·88 MoM) and Turner syndrome without hydrops (median=0·64 MoM). In contrast, inhibin A levels were markedly increased in cases of Turner syndrome with hydrops (median=3·91 MoM). These data for Turner syndrome are similar to those for human chorionic gonadotropin (hCG). The addition of inhibin A to multiple marker screening (alpha-fetoprotein, unconjugated oestriol and hCG) resulted in a median increase in the Down syndrome risk of 2·6-fold in cases of Turner syndrome with hydrops. The addition of inhibin A to multiple marker Down syndrome screening programmes will be likely to enhance the detection of fetal Turner syndrome with hydrops, but will not contribute substantially to the detection of fetal trisomy 18. Copyright © 1998 John Wiley & Sons, Ltd.
Trisomy
Human chorionic gonadotropin
Hydrops fetalis
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