Growth and Development

Prader, A.

doi:10.1007/978-3-642-96158-8_19

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2010

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Cited by 10 publications

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“…These males had normal germinal and endocrine function. The testicular enlargement was variable but exceeded the 90th centile as defined by Prader [1974]. Turner et a1 [1978] presented data suggesting that males with X-linked MR/macro-orchidism also had the fra(X).…”

Section: Introductionmentioning

confidence: 84%

Screening of mentally retarded males for macro‐orchidism and the fragile X chromosome

Howard‐Peebles

Finley

Opitz³

1983

Am. J. Med. Genet.

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Four hundred forty-four male residents of a state mental retardation institution were screened for macro-orchidism. Twenty-six white males (8.3%) and two black males (1.5%) had marked macro-orchidism (greater than 34 ml). Seven of 17 whites tested for the fragile X were positive; the one black tested was negative. Thus, a minimum of 7/26 or 27% (whites) are fragile X positive indicating potential population variability, also evident from previous reports. Concurrent testing of institutionalized brother pairs indicated over half of the fragile X-positive males had a strong family history consistent with X-linked mental retardation.

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