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Quoted phrase not found in phrase index: "Macroorchidism, postpubertal"
Page 1
Fragile X syndrome in Democratic Republic of Congo: dysmorphic, cognitive and behavioral findings in 14 subjects from three families.
Kasole Lubala T, Kayembe-Kitenge T, Lubala N, Kanteng G, Luboya O, Hagerman R, Lukusa-Tshilobo P, Lumaka A. Kasole Lubala T, et al. Clin Dysmorphol. 2024 Jan 1;33(1):9-15. doi: 10.1097/MCD.0000000000000471. Epub 2023 Nov 29. Clin Dysmorphol. 2024. PMID: 38038060
Typical dysmorphic characteristics of Fragile-X syndrome including elongated face, large and prominent ears were found in both males and females with the full mutation. Macroorchidism was found in all post-pubertal boys. The cognitive ability in our cohort varies widely ra …
Typical dysmorphic characteristics of Fragile-X syndrome including elongated face, large and prominent ears were found in both males and fem …
Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation.
Haberlandt E, Zotter S, Witsch-Baumgartner M, Zschocke J, Kotzot D. Haberlandt E, et al. Eur J Pediatr. 2014 Sep;173(9):1257-61. doi: 10.1007/s00431-014-2375-6. Epub 2014 Jul 17. Eur J Pediatr. 2014. PMID: 25027833
Fragile X syndrome characterized by intellectual disability (ID), facial dysmorphism, and postpubertal macroorchidism is the most common monogenic cause of ID. ...Dysmorphic evaluation revealed no strikingly long face, no prominent forehead/frontal bossing, no promi …
Fragile X syndrome characterized by intellectual disability (ID), facial dysmorphism, and postpubertal macroorchidism is the m …
The fragile X syndrome (Martin-Bell syndrome). Clinical and cytogenetic findings in 16 prepubertal boys and in 4 of their 5 families.
Schinzel A, Largo RH. Schinzel A, et al. Helv Paediatr Acta. 1985 Jul;40(2-3):133-52. Helv Paediatr Acta. 1985. PMID: 3843245
Clinical and cytogenetic findings from 16 prepubertal males with the fragile X syndrome (X-linked mental retardation with postpubertal macro-orchidism and fragile site at Xq27/8, or Martin-Bell syndrome) and from their families are reported. ...
Clinical and cytogenetic findings from 16 prepubertal males with the fragile X syndrome (X-linked mental retardation with postpubertal …
Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.
Goonewardena P, Gustavson KH, Holmgren G, Tolun A, Chotai J, Johnsen E, Pettersson U. Goonewardena P, et al. Clin Genet. 1986 Oct;30(4):249-54. doi: 10.1111/j.1399-0004.1986.tb00604.x. Clin Genet. 1986. PMID: 2878749
This disease is characterized by the expression of fragile site in the region q27.3 of the X-chromosome of affected boys when their lymphocytes are cultured in folate deficient medium. In most patients there is macroorchidism postpubertally. The clinical diagnosis o …
This disease is characterized by the expression of fragile site in the region q27.3 of the X-chromosome of affected boys when their lymphocy …
Fragile X syndrome. Clinical and cytogenetic studies.
Félix TM, de Pina-Neto JM. Félix TM, et al. Arq Neuropsiquiatr. 1998 Mar;56(1):9-17. doi: 10.1590/s0004-282x1998000100002. Arq Neuropsiquiatr. 1998. PMID: 9686114

The fragile X diagnosis was confirmed in all the male individuals with mental retardation. In the postpubertal subjects the most frequent clinical signs were inner canthal distance < 3.5 cm, macro-orchidism, long and narrow face and high arched palate while in the prepu

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The fragile X diagnosis was confirmed in all the male individuals with mental retardation. In the postpubertal subjects the most freq …