Phylloid hypomelanosis associated with a mosaic trisomy 13 in the 13q31.3-qter region: atypical phylloid distribution and typical hypomelanosis

2017 ◽  
Vol 30 (2) ◽  
pp. 269-272 ◽  
Author(s):  
Naoki Oiso ◽  
Kazuko Sakai ◽  
Kazuto Nishio ◽  
Akira Kawada
Keyword(s):  
Trisomy 13 ◽  
Mosaic Trisomy

Mosaic trisomy 13: understanding origin using SNP array

2010 ◽  
Vol 48 (5) ◽  
pp. 323-326 ◽  
Author(s):  
N. Jinawath ◽  
R. Zambrano ◽  
E. Wohler ◽  
M. K. Palmquist ◽  
J. Hoover-Fong ◽  
...  
Keyword(s):  
Snp Array ◽  
Trisomy 13 ◽  
Mosaic Trisomy

Monozygotic Twins Discordant for Trisomy 13

2017 ◽  
Vol 20 (4) ◽  
pp. 340-347 ◽  
Author(s):  
Patrick McFadden ◽  
Sarah Smithson ◽  
Robert Massaro ◽  
Jialing Huang ◽  
Gail T Prado ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Monozygotic Twins ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Trisomy 13 ◽  
Ultrasound Finding ◽  
Umbilical Cord Cyst ◽  
First Trimester Ultrasound ◽  
Mosaic Trisomy ◽  
Increased Nuchal Translucency

Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype. The surviving twin will be monitored for potential complication of uniparental disomy 13 and mosaic trisomy 13. This case reinforces the need for early ultrasound and nuchal translucency measurements, especially in twin gestations.

scholarly journals A double aneuploid mosaic: trisomy 13 and XXY.

1972 ◽  
Vol 9 (3) ◽  
pp. 365-367 ◽  
Author(s):  
A J Ebbin ◽  
R Chu Lim ◽  
J W Towner ◽  
M G Wilson
Keyword(s):  
Trisomy 13 ◽  
Mosaic Trisomy

scholarly journals A Case Study of Mosaic Trisomy 13 in a 2-year-old Filipino Child

2020 ◽  
Vol 54 (4) ◽  
Author(s):  
Carmencita D. Padilla ◽  
Patrick Jose D. Padilla ◽  
Lourdes Bernadette S. Tanchanco ◽  
Myrian R. De la Cruz ◽  
Edsel G. Salonga
Keyword(s):  
Ventricular Septal Defect ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Developmental Delays ◽  
Septal Defect ◽  
Oral Feeding ◽  
Trisomy 13 ◽  
Intellectual Function ◽  
Mosaic Trisomy

Mosaic trisomy 13 is estimated to occur in 5% of all trisomy 13 cases. Presentation of trisomy 13 mosaicism is highly variable, with cases that may present with a normal phenotype and intellectual function, to cases with grossly abnormal features and profound developmental delays. We present a 2-year-old female with trisomy 13 mosaicism, who presented with small for gestational age (SGA), polydactyly, ventricular septal defect (VSD), and poor oral feeding.

scholarly journals Mosaic trisomy 13 and a sacral appendage

2013 ◽  
Vol 2013 (jul31 1) ◽  
pp. bcr2012008150-bcr2012008150 ◽  
Author(s):  
H. Pachajoa ◽  
L. E. Meza Escobar
Keyword(s):  
Trisomy 13 ◽  
Mosaic Trisomy

scholarly journals Low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome in a pregnancy

2020 ◽  
Vol 59 (6) ◽  
pp. 935-937
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Fang-Tzu Wu ◽  
Yun-Yi Chen ◽  
Meng-Shan Lee ◽  
...  
Keyword(s):  
Trisomy 13 ◽  
Favorable Outcome ◽  
Low Level ◽  
Mosaic Trisomy

scholarly journals Autopsy Report of a 7-Year Old Patient with the Mosaic Trisomy 13

2013 ◽  
Vol 67 (2) ◽  
pp. 813-817 ◽  
Author(s):  
George Imataka ◽  
Hideo Yamanouchi ◽  
Junko Hirato ◽  
Mitsuoki Eguchi ◽  
Masaru Kojima ◽  
...  
Keyword(s):  
Trisomy 13 ◽  
Autopsy Report ◽  
Mosaic Trisomy

Prenatal diagnosis of mosaic trisomy 13: a case report

1998 ◽  
Vol 18 (9) ◽  
pp. 971-974 ◽  
Author(s):  
S. R. Eubanks ◽  
J. A. Kuller ◽  
D. Amjadi ◽  
C. M. Powell
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Trisomy 13 ◽  
Mosaic Trisomy
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