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497 Possible Causes for Karyotype Abnormal, Possibly Scoliosis, Tall Stature

Did you mean: Karyotype Abnormal, Possibly, Scoliosis, Tall Stature

  • Klinefelter Syndrome

    Cytogenetic examination revealed the abnormal karyotype of 47,XXY. There are no clear references as to diagnosing the Klinefelter's syndrome.[] Osteoporosis may lead to vertebral collapse and even scoliosis.[] These patients usually present with tall stature. We report a case of KS with short stature due to growth hormone deficiency.[]

  • Marfan Syndrome

    Here we report a patient with a diagnosis of Marfan syndrome and infertility found to have an abnormal karyotype consisting of a chromosome 15 deletion and a ring-type sSMC[] Vision problems should be treated when possible. Monitor for scoliosis, especially during the teenage years.[] It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and sublaxation of the lens A hereditary disorder[]

  • Klinefelter's Syndrome with XY/XXY Mosaic

    Abstract The abnormal karyotype (47/XXY) associated with the most common form of Klinefelter's syndrome was first observed by Jacobs and Strong (1) in 1959.[] Occasional abnormalities may include cryptorchidism, hypospadias, ataxia, scoliosis during adolescence, and diabetes mellitus in adulthood.[] stature with eunuchoid features, and psychosocial morbidity. 1 3 How common is Klinefelter’s syndrome?[]

  • Trisomy X Syndrome

    Triple X can be diagnosed by a blood test which is able to look at a person’s chromosomes (karyotype). Abnormalities on the electroencephalography may be present.[] At the follow up, this patient developed cyphosis and scoliosis. She continued to present asthma attacks and received inhaled corticosteroid with incomplete improvement.[] Cognitive and intellectual abnormalities - A variable degree of intellectual impairment, in addition to tall stature, is another key feature of trisomy X syndrome.[]

  • XYY Syndrome

    Karyotype analysis revealed an abnormal karyotype of 47,XYY [14]/46,XYY,-21[16].[] […] flat feet ( pes planus ), fifth fingers that curve inward ( clinodactyly ), widely spaced eyes ( ocular hypertelorism ), and abnormal side-to-side curvature of the spine ( scoliosis[] RESULTS: Clinical examination revealed a tall stature and severe acne, and endocrinological/metabolic assessment revealed insulin resistance.[]

  • Turner Syndrome

    The relative proportions of karyotypic abnormalities found were: 45,X (59.3%); mosaicism 45,X/46,XX (22.9%); and structural abnormalities in chromosome X (17.8%).[] Scoliosis The incidence of scoliosis in TS patients was 0.69%, compared with 0.39% among non-TS patients.[] .: Short stature homeobox-containing gene duplication on the der(X) chromosome in a female with 45,X/46,X, der(X), gonadal dysgenesis, and tall stature.[]

  • Sotos Syndrome

    Neoplasms in SoS are found with a frequency of 2.2-3.9% Inborn conditions Routine chromosome analysis usually shows normal karyotype.[] Other possible symptoms and signs can include: behavioral disturbances, intellectual disability, scoliosis, seizures, heart defects, kidney defects, weak muscle tone, stuttering[] Constitutional tall stature Tall stature in childhood usually presents less initial concern than short stature because, at least in early childhood, being tall can be advantageous[]

  • Growth Failure

    Thus our patient’s normal karyotype was an expected finding.[] On examination he was also noted to have a small chest, subcostal recession and a mild thoracolumbar scoliosis.[] Describe when treatment is indicated for children with short and tall stature.[]

  • Fragile X Syndrome

    This disorder results from an abnormal expansion in (CGG)n in repeat found in the coding sequence of the FMRI gene, located at Xq 27.3.[] […] of obsessive-compulsive disorder, sensory integration disorder, or both Self-injurious behavior and significant tantrums Musculoskeletal features Pes planus Joint laxity Scoliosis[] Physical manifestations can include specific facial features, macroorchidism, and tall stature in childhood that normalizes over time.[]

  • 48,XXYY Syndrome

    Chromosomal analysis revealed an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY syndrome.[] , leg ulcers, elbow abnormalities, curvature of the little finger (known as ‘clindactyly’), stretchy joints (known as ‘hypermobility’), curvature of the spine (known as ‘scoliosis[] It has similarities to 47, XXY Klinefelter's syndrome, with tall stature, micro-orchidism, hypergonadotropic hypogonadism and infertility in males.[]

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