Mole maker phenotype: possible narrowing of the candidate region

Recent data has suggested that familial recurrent hydatidiform mole is a rare autosomal recessive trait in women experiencing this gestational disease (MIM 231090). Here we provide molecular data on an additional family confirming that recurrent familial hydatidiform moles are diploid, biparental an...

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Veröffentlicht in:European journal of human genetics : EJHG 2000-08, Vol.8 (8), p.641-644
Hauptverfasser: Sensi, A, Gualandi, F, Pittalis, M C, Calabrese, O, Falciano, F, Maestri, I, Bovicelli, L, Calzolari, E
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Sprache:eng
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Zusammenfassung:Recent data has suggested that familial recurrent hydatidiform mole is a rare autosomal recessive trait in women experiencing this gestational disease (MIM 231090). Here we provide molecular data on an additional family confirming that recurrent familial hydatidiform moles are diploid, biparental and arise from independent conceptions. A narrowing of the gene interval on chromosome 19q13.3-13.4 is suggested by haplotype analysis in two sisters.
ISSN:1018-4813
1476-5438
DOI:10.1038/sj.ejhg.5200501