Prenatal diagnosis of concomitant Wolf-Hirschhorn syndrome and split hand-foot malformation associated with partial monosomy 4p (4p16.1→pter) and partial trisomy 10q (10q25.1→qter)

被引:9
作者
Chen, Chih-Ping [1 ,2 ,3 ,4 ]
Chen, Yann-Jang [5 ,6 ,7 ]
Chern, Schu-Rern [2 ]
Tsai, Fuu-Jen [8 ,9 ]
Chang, Tung-Yao [1 ]
Lee, Chen-Chi [1 ]
Town, Dai-Dyi [1 ]
Lee, Meng-Shan [1 ]
Wang, Wayseen [2 ]
机构
[1] Mackay Mem Hosp, Dept Obstet & Gynecol, Taipei 104, Taiwan
[2] Mackay Mem Hosp, Dept Med Res, Taipei 104, Taiwan
[3] Asia Univ, Dept Biotechnol, Taichung, Taiwan
[4] China Med Univ, Coll Chinese Med, Sch Chinese Med, Taichung, Taiwan
[5] Natl Yang Ming Univ, Fac Life Sci, Taipei 112, Taiwan
[6] Natl Yang Ming Univ, Inst Genome Sci, Taipei 112, Taiwan
[7] Vet Gen Hosp, Dept Pediat, Taipei, Taiwan
[8] China Med Univ Hosp, Dept Med Genet, Taichung, Taiwan
[9] China Med Univ Hosp, Dept Med Res, Taichung, Taiwan
关键词
partial monosomy 4p; partial trisomy 10q; prenatal diagnosis; split hand-foot malformation (SHFM); Wolf-Hirschhorn syndrome (WHS);
D O I
10.1002/pd.1993
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:450 / 453
页数:4
相关论文
共 26 条
[1]   Typical isolated ectrodactyly of hands and feet:: Early antenatal diagnosis [J].
Arbués, J ;
Galindo, A ;
Puente, JM ;
Vega, MG ;
Hernández, M ;
de la Fuente, P .
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE, 2005, 17 (04) :299-301
[2]  
Bamshad M, 1998, AM J MED GENET, V75, P351, DOI 10.1002/(SICI)1096-8628(19980203)75:4<351::AID-AJMG3>3.0.CO
[3]  
2-T
[4]   Split hand foot malformation is associated with a reduced level of Dactylin gene expression [J].
Basel, D ;
DePaepe, A ;
Kilpatrick, MW ;
Tsipouras, P .
CLINICAL GENETICS, 2003, 64 (04) :350-354
[5]   Prenatal diagnosis of de novo pure partial monosomy 4p (4p15.1→pter) in a growth-restricted fetus with a Greek warrior helmet face and unilateral facial cleft on three-dimensional ultrasound [J].
Chen, CP ;
Hsu, CY ;
Lee, CC ;
Chen, WL ;
Chen, LF ;
Wang, WS .
PRENATAL DIAGNOSIS, 2004, 24 (11) :934-936
[6]   Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature [J].
Chuangsuwanich, T ;
Sunsaneevithayakul, P ;
Muangsomboon, K ;
Limwongse, C .
PRENATAL DIAGNOSIS, 2005, 25 (03) :210-215
[7]   Defect in the maintenance of the apical ectodermal ridge in the Dactylaplasia mouse [J].
Crackower, M ;
Motoyama, J ;
Tsui, LC .
DEVELOPMENTAL BIOLOGY, 1998, 201 (01) :78-89
[8]   A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24 [J].
de Mollerat, XJ ;
Gurrieri, F ;
Morgan, CT ;
Sangiorgi, E ;
Everman, DB ;
Gaspari, P ;
Amiel, J ;
Bamshad, MJ ;
Lyle, R ;
Blouin, JL ;
Allanson, JE ;
Le Marec, B ;
Wilson, M ;
Braverman, NE ;
Radhakrishna, U ;
Delozier-Blanchet, C ;
Abbott, A ;
Elghouzzi, V ;
Antonarakis, S ;
Stevenson, RE ;
Munnich, A ;
Neri, G ;
Schwartz, CE .
HUMAN MOLECULAR GENETICS, 2003, 12 (16) :1959-1971
[9]   Discrepancies in upper and lower limb patterning in split hand foot malformation [J].
Elliott, AM ;
Reed, MH ;
Roscioli, T ;
Evans, JA .
CLINICAL GENETICS, 2005, 68 (05) :408-423
[10]   Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation [J].
Everman, David B. ;
Morgan, Chad T. ;
Lyle, Robert ;
Laughridge, Mary E. ;
Bamshad, Michael J. ;
Clarkson, Katie B. ;
Colby, Randall ;
Gurrieri, Fiorella ;
Limes, A. Micheil ;
Roberson, Jacquelyn ;
Schrander-Stumpel, Connie ;
van Bokhoven, Hans ;
Antonarakis, Stylianos E. ;
Schwartz, Charles E. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (13) :1375-1383