Renal hypodysplasia and unilateral ovarian agenesis in the Penta-X syndrome

We report the case of a 3‐year‐old penta‐X female with two previously undescribed anomalies: hypoplastic kidney and absent ipsilateral ovary. The gross and histologic structure of the contralateral ovary was normal, suggesting that adults with this syndrome may be fertile.

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics 1980, Vol.6 (2), p.153-162
Hauptverfasser:	Toussi, Tahmouresse, Halal, Fahed, Lesage, Robert, Delorme, Fernand, Bergeron, André, Opitz, John M.
Format:	Artikel
Sprache:	eng
Schlagworte:	agenesis of ovary congenital hypotonia mental retardation multiple congenital anomalies syndrome pentasomy X renal hypodysplasia shortness of stature
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Beschreibung
Zusammenfassung:	We report the case of a 3‐year‐old penta‐X female with two previously undescribed anomalies: hypoplastic kidney and absent ipsilateral ovary. The gross and histologic structure of the contralateral ovary was normal, suggesting that adults with this syndrome may be fertile.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320060209