Xq- Turner's syndrome: reconsideration of hypothesis that Xp- causes somatic features in Turner's syndrome.

Hecht, Frederick; Jones, Donald L.; Delay, Marleen; Klevit, Harvey D.

doi:10.1136/jmg.7.1.1

Cited by 60 publications

(17 citation statements)

References 8 publications

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“…As might have been expected, somatic anomalies are more commonly found in 45,X than in 46,XXqor 46XXp - (Hecht, et al, 1970). Xqappears to be associated with the somatic anomalies of Turner's syndrome in about the same frequency as Xp -.…”

Section: Discussionsupporting

confidence: 61%

“…The presence of a small Barr body is consistent with this interpretation of the karyotype. Hecht et al (1970) have compared the findings in 6 reported cases of presumed Xq -, 5 cases of Xp -, and 117 cases of45,X. We have been able to find reports of 8 individuals with a presumed 46,XXqkaryotype.…”

Section: Discussionmentioning

confidence: 97%

“…(de Grouchy et al, 1961;Court Brown et al, 1964;Mantle, communication to Ferguson-Smith, 1965;P. E. Polani, personal communication to Ferguson-Smith, 1965 and to Hecht, 1970;Baughman et al, 1968;Hecht et al, 1970). The available data of positive findings concerning the 8 cases of 46,XXq -, including our own, may be summarized as follows: short stature (less than 152-4 cm) in 3 of the 8 cases; shield-chest (2/8); webbed neck (0/8); lymphoedema (0/8); short 4th metacarpal (2/8); hypoplastic nails (1/8); pigmented naevi (3/8); congenital heart disease (0/8); sexual infantilism (8/8); and severe mental defect (0/8).…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Somatic stigmata of Turner's syndrome in a patient with 46,XXq-.

Bocian¹,

Krmpotic²,

Szego³

et al. 1971

Journal of Medical Genetics

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Section: Discussionsupporting

confidence: 61%

Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Somatic stigmata of Turner's syndrome in a patient with 46,XXq-.

Bocian¹,

Krmpotic²,

Szego³

et al. 1971

Journal of Medical Genetics

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“…The previously described cases with deletion of part of an X chromosome have usually been associated with primary amenorrhoea in addition to short stature. The short stature appears with equal frequency with both Xp and Xq deletions (Hecht et al, 1970;Bocian et al, 1971;Lippe and Crandall, 1973). It seems likely that the presence of a normal cell line in our patient may explain the absence of amenorrhoea.…”

Section: Discussionmentioning

confidence: 99%

Primary thyroid failure presenting as a pituitary tumour

Daggett

Kuku

Harsoulis

et al. 1975

Postgraduate Medical Journal

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SummaryA 20-year-old female was referred as a pituitary tumour with failure to grow. Primary hypothyroidism from the age of 8 had been diagnosed at the age of 11, when the patient was put on thyroid replacement therapy. Routine investigations showed normal anterior pituitary function, and confirmed the diagnosis of primary hypothyroidism. A needle biopsy of the pituitary gland revealed an empty fossa. The possible relation of the empty sella with the primary hypothyroidism is discussed. A chromosome anomaly, deletion of the short arm of an X chromosome, was found and its contribution to the delayed growth is discussed.FAILURE to grow in childhood may be associated with a number of conditions. These include deficiency of growth hormone or of thyroxine, chromosomal abnormalities of various types and systemic illness such as malabsorption. A patient is presented here, who showed evidence of several of these causes of growth retardation. Case historyA 20-year-old girl was referred with growth failure and radiological signs of a pituitary tumour.She had been a full term delivery, weighing 3-2 kg at birth. Apart from recurrent otitis media she developed normally until the age of 8 years when she t Present address: Medical Registrar,

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“…The X chromosome seems to have quantitative effects on several body dimensions and the presence of genes in an X chromosome with influence on stature and tooth size has been postulated (Shimaguchi et al, 1961;Garn and Rohmann, 1962;Ferguson-Smith, 1965;Filipson et al, 1965;Garn et al, 1965;Hecht et al, 1970;Alvesalo, 1971;Eiben et al, 1974;Simpson, 1975;Park, 1977;Alvesalo and Portin, 1980;Kari et al, 1980;Alvesalo and Tammisalo, 1981). The effects of a missing X chromosome in 45,X females were studied in detail recently Warrela et al, 1984) and it was concluded that the X chromosome seems to contain genes which control growth in general.…”

mentioning

confidence: 94%

Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

Varrela

1984

American J Phys Anthropol

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The effects of an extra X chromosome on size and shape of body and head were studied in 47,XXY males; 25 anthropometric measurements were recorded from 29 adult 47,XXY males and compared with those of male relatives and control males. In stature, arm length, leg length, triceps skinfold, and subscapular skinfold 47,XXY males were larger and in biacromial diameter, bideltoid breadth, wrist breadth, and in most head dimensions smaller than normal males. Arm length was increased less than leg length. Increase in stature seemed to be caused solely by increased leg length, and the somewhat feminine proportions in trunk were caused by decrease in biacromial diameter. Correlations of the body and head dimensions between 47,XXY males and their male relatives were found to be normal. The present findings support the earlier proposals that X chromosome carries genes which influence linear growth. It is suggested that the reduction in biacromial diameter is caused by lowered plasma testosterone level which may also have affected sitting height. The control of body and head dimensions seems to be maintained relatively normal.

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Xq- Turner's syndrome: reconsideration of hypothesis that Xp- causes somatic features in Turner's syndrome.

Cited by 60 publications

References 8 publications

Somatic stigmata of Turner's syndrome in a patient with 46,XXq-.

Somatic stigmata of Turner's syndrome in a patient with 46,XXq-.

Primary thyroid failure presenting as a pituitary tumour

Effects of X chromosome on size and shape of body: An anthropometric investigation in 47,XXY males

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