A case of polimalformed fetus with a microdeletion of CTNNA3 gene

We report a case of a male fetus of 20 weeks of gestation with plurimalformed observed by transonic scan and confirmed by MR. The karyotype was 46, XY. Molecular analysis showed a microdeletion of about 100 kb in the CTNNA3 gene

Bibliographische Detailangaben
Veröffentlicht in:Journal of prenatal medicine. - 2007. - 10(2016), 3-4 vom: 22. Juli, Seite 20-22
1. Verfasser: Cancemi, Dino (VerfasserIn)
Weitere Verfasser: Urciuoli, Maria, Morelli, Franco, Lonardo, Maria Concetta, Lonardo, Valeria, Spampanato, Carmine, Ventruto, Marialuisa, Ventruto, Valerio, Sica, Carmine
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2016
Zugriff auf das übergeordnete Werk:Journal of prenatal medicine
Schlagworte:Case Reports chomosomic microdeletion microarray DNA analysis new syndrome plurimalformed syndrome prenatal diagnosis
LEADER 01000naa a22002652 4500
001 NLM274004852
003 DE-627
005 20231225002519.0
007 cr uuu---uuuuu
008 231225s2016 xx |||||o 00| ||eng c
024 7 |a 10.11138/jpm/2016.10.3.020  |2 doi 
028 5 2 |a pubmed24n0913.xml 
035 |a (DE-627)NLM274004852 
035 |a (NLM)28725342 
040 |a DE-627  |b ger  |c DE-627  |e rakwb 
041 |a eng 
100 1 |a Cancemi, Dino  |e verfasserin  |4 aut 
245 1 2 |a A case of polimalformed fetus with a microdeletion of CTNNA3 gene 
264 1 |c 2016 
336 |a Text  |b txt  |2 rdacontent 
337 |a ƒaComputermedien  |b c  |2 rdamedia 
338 |a ƒa Online-Ressource  |b cr  |2 rdacarrier 
500 |a Date Revised 01.10.2020 
500 |a published: Print 
500 |a Citation Status PubMed-not-MEDLINE 
520 |a We report a case of a male fetus of 20 weeks of gestation with plurimalformed observed by transonic scan and confirmed by MR. The karyotype was 46, XY. Molecular analysis showed a microdeletion of about 100 kb in the CTNNA3 gene 
650 4 |a Case Reports 
650 4 |a chomosomic microdeletion 
650 4 |a microarray DNA analysis 
650 4 |a new syndrome 
650 4 |a plurimalformed syndrome 
650 4 |a prenatal diagnosis 
700 1 |a Urciuoli, Maria  |e verfasserin  |4 aut 
700 1 |a Morelli, Franco  |e verfasserin  |4 aut 
700 1 |a Lonardo, Maria Concetta  |e verfasserin  |4 aut 
700 1 |a Lonardo, Valeria  |e verfasserin  |4 aut 
700 1 |a Spampanato, Carmine  |e verfasserin  |4 aut 
700 1 |a Ventruto, Marialuisa  |e verfasserin  |4 aut 
700 1 |a Ventruto, Valerio  |e verfasserin  |4 aut 
700 1 |a Sica, Carmine  |e verfasserin  |4 aut 
773 0 8 |i Enthalten in  |t Journal of prenatal medicine  |d 2007  |g 10(2016), 3-4 vom: 22. Juli, Seite 20-22  |w (DE-627)NLM216403898  |x 1971-3282  |7 nnns 
773 1 8 |g volume:10  |g year:2016  |g number:3-4  |g day:22  |g month:07  |g pages:20-22 
856 4 0 |u http://dx.doi.org/10.11138/jpm/2016.10.3.020  |3 Volltext 
912 |a GBV_USEFLAG_A 
912 |a SYSFLAG_A 
912 |a GBV_NLM 
912 |a GBV_ILN_11 
912 |a GBV_ILN_31 
912 |a GBV_ILN_40 
912 |a GBV_ILN_72 
912 |a GBV_ILN_350 
951 |a AR 
952 |d 10  |j 2016  |e 3-4  |b 22  |c 07  |h 20-22