scholarly journals Isodicentric Chromosome 15 Syndrome in a Korean Patient With Café-au-lait Spots

2015 ◽  
Vol 35 (4) ◽  
pp. 474-476
Author(s):  
John Hoon Rim ◽  
Hee Jung Chung ◽  
Saeam Shin ◽  
Seo-Jin Park ◽  
Jong Rak Choi
Keyword(s):  
Chromosome 15 ◽  
Korean Patient ◽  
Café Au Lait Spots ◽  
Isodicentric Chromosome

scholarly journals A case of isodicentric chromosome 15 presented with epilepsy and developmental delay

2012 ◽  
Vol 55 (12) ◽  
pp. 487 ◽  
Author(s):  
Jon Soo Kim ◽  
Jinyu Park ◽  
Byung-Joo Min ◽  
Sun Kyung Oh ◽  
Jin Sun Choi ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chromosome 15 ◽  
Isodicentric Chromosome

De Novo Ring Chromosome 15: Molecular Cytogenetic and Clinical Characterization of First Case from Saudi Arabia

2020 ◽  
Author(s):  
Amal Alhashem ◽  
Saria Alazmeh ◽  
Ayla Barakat ◽  
Ahmed Alfares ◽  
Hatem Elghezal
Keyword(s):  
De Novo ◽  
Ring Chromosome ◽  
Chromosome 15 ◽  
Chromosomal Disorder ◽  
First Case ◽  
Café Au Lait Spots ◽  
New Findings ◽  
Crossed Fused Renal Ectopia ◽  
Variable Presentation

AbstractRing chromosome 15 is a rare chromosomal disorder, which usually occurs during early embryonic development via spontaneous errors and has variable presentation. To date, 89 cases of this condition have been reported. This case report describes a 5-year-old Saudi boy who was diagnosed as having de novo 46,XY,r(15). The patient presented with short stature, speech delay, café au lait spots, and facial dysmorphic features, together with new findings of left crossed fused renal ectopia and 11 ribs. This presentation was compared with the findings of cases reported previously.

Two cases of recurrent abortion in which isodicentric chromosome 15 was observed in the husbands

2014 ◽  
Vol 40 (6) ◽  
pp. 1795-1798 ◽  
Author(s):  
Taro Nonaka ◽  
Izumi Ooki ◽  
Takayuki Enomoto ◽  
Koichi Takakuwa
Keyword(s):  
Chromosome 15 ◽  
Recurrent Abortion ◽  
Isodicentric Chromosome

Acute lymphoblastic leukemia in a nine-year-old girl with isodicentric chromosome 15 syndrome

2019 ◽  
Vol 235-236 ◽  
pp. 93-94
Author(s):  
Roberto Antonucci ◽  
Nadia Vacca ◽  
Elisa Ghisu ◽  
Gloria Acquaviva ◽  
Carlo Cosmi ◽  
...  
Keyword(s):  
Acute Lymphoblastic Leukemia ◽  
Lymphoblastic Leukemia ◽  
Chromosome 15 ◽  
Isodicentric Chromosome

Three probands with autistic disorder and isodicentric chromosome 15

2000 ◽  
Vol 96 (3) ◽  
pp. 365-372 ◽  
Author(s):  
Chantelle M. Wolpert ◽  
Marisa M. Menold ◽  
Meredyth P. Bass ◽  
Mazin B. Qumsiyeh ◽  
Shannon L. Donnelly ◽  
...  
Keyword(s):  
Autistic Disorder ◽  
Chromosome 15 ◽  
Isodicentric Chromosome

Autistic symptoms among children and young adults with isodicentric chromosome 15

2000 ◽  
Vol 96 (1) ◽  
pp. 128-129 ◽  
Author(s):  
Chantelle Wolpert ◽  
Margaret A. Pericak-Vance ◽  
Ruth K. Abramson ◽  
Harry H. Wright ◽  
Michael L. Cuccaro
Keyword(s):  
Young Adults ◽  
Chromosome 15 ◽  
Autistic Symptoms ◽  
Children And Young Adults ◽  
Isodicentric Chromosome

scholarly journals A Nine-Month-Old Boy With Isodicentric Chromosome 15: A Case Report

2013 ◽  
Vol 37 (2) ◽  
pp. 291 ◽  
Author(s):  
Doug Ho Park ◽  
Seonggyu Lim ◽  
Eun Sook Park ◽  
Eun Geol Sim
Keyword(s):  
Case Report ◽  
Chromosome 15 ◽  
Isodicentric Chromosome
Sign in / Sign up

Export Citation Format

Share Document