Presumptive 46,XX-46,XY-47,XXY mosaicism in a hermaphrodite.

Chaudhuri, Amala; Chatterjee, Sujata; Sarkar, Sukanya

doi:10.1136/jmg.8.1.117

Journal of Medical Genetics

1971

DOI: 10.1136/jmg.8.1.117

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Presumptive 46,XX-46,XY-47,XXY mosaicism in a hermaphrodite.

Amala Chaudhuri¹,

Sujata Chatterjee²,

Sukanya Sarkar³

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1972

1987

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Cited by 4 publications

(1 citation statement)

References 7 publications

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“…Such a karyotype has only been reported by seven investigators (Ribas-Mundo & Prats 1965, Burgio et aI. 1966, Barreiro et al 1969, Chaudhuri et al 1971, Hamerton 1971, Broeders et al 1974, Barta et al 1976, with varying phenotypes.…”

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confidence: 91%

A phenotypic male with true hermaphroditism and a 46,XX/46,XY/ 47,XXY karyotype

Wit¹,

Quartero²,

Bax³

et al. 1987

Clinical Genetics

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A phenotypic boy presenting with gynaecomastia showed a mixed karyotype of 46,XX/46,XY/ 47,XXY. The left gonad was normally descended into the scrotum, but proved to be an ovary without any testicular structures. After left gonadectomy, plasma androgen and estrogen levels showed that the right gonad only contained testicular tissue. Seven patients with this form of triple mosaicism have been described but the clinical Features are strikingly different among the described cases.

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mentioning

confidence: 91%

A phenotypic male with true hermaphroditism and a 46,XX/46,XY/ 47,XXY karyotype

Wit¹,

Quartero²,

Bax³

et al. 1987

Clinical Genetics

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show abstract

True hermaphroditism

Niekerk

1976

American Journal of Obstetrics and Gynecology

120

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The Infant with Ambiguous Genitalia

Moloshok¹,

Kerr

1972

Pediatric Clinics of North America

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Presumptive 46,XX-46,XY-47,XXY mosaicism in a hermaphrodite.

Cited by 4 publications

References 7 publications

A phenotypic male with true hermaphroditism and a 46,XX/46,XY/ 47,XXY karyotype

A phenotypic male with true hermaphroditism and a 46,XX/46,XY/ 47,XXY karyotype

True hermaphroditism

The Infant with Ambiguous Genitalia

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