Mole maker phenotype: possible narrowing of the candidate region

被引:42
作者
Sensi, A
Gualandi, F
Pittalis, MC
Calabrese, O
Falciano, F
Maestri, I
Bovicelli, L
Calzolari, E
机构
[1] Univ Ferrara, Dipartimento Med Sperimentale & Diagnost, Sez Genet Med, I-44100 Ferrara, Italy
[2] Univ Bologna, Policlin S Orsola, I-40138 Bologna, Italy
[3] Univ Ferrara, Arcispedale S Anna, Sez Anat Patol, I-44100 Ferrara, Italy
关键词
hydatidiform mole; familial; recurrent; biparental; genetics;
D O I
10.1038/sj.ejhg.5200501
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:641 / 644
页数:4
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