Clinical, cytogenetic, and molecular findings in 45,X/47,XX,+18 mosaicism: Clinical report and review of the literature

2002 ◽  
Vol 110 (3) ◽  
pp. 278-282 ◽  
Author(s):  
Regine Schubert ◽  
Thomas Eggermann ◽  
Cornelia Hofstaetter ◽  
Barbara von Netzer ◽  
Gisela Knöpfle ◽  
...  
Keyword(s):  
Clinical Report ◽  
Review Of The Literature

scholarly journals Hepatic Adenomatosis in Aicardi Syndrome: a Clinical Report and Review of the Literature

2021 ◽  
Author(s):  
Enrico Boninsegna ◽  
Emilio Simonini ◽  
Stefano Crosara ◽  
Antonia Semeraro ◽  
Stefano Colopi
Keyword(s):  
Clinical Report ◽  
Review Of The Literature ◽  
Aicardi Syndrome ◽  
Hepatic Adenomatosis

scholarly journals Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Qiao-Yan Shao ◽  
Pei-Lin Wu ◽  
Bi-Yun Lin ◽  
Sen-Jing Chen ◽  
Jian Liu ◽  
...  
Keyword(s):  
Digeorge Syndrome ◽  
Clinical Manifestations ◽  
Large Deletion ◽  
Terminal Deletion ◽  
Facial Features ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Case Presentation ◽  
Contiguous Gene ◽  
Renal Abnormalities

Abstract Background Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations. Case presentation Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2). Conclusion On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.

scholarly journals Goltz syndrome in males: A clinical report of a male patient carrying a novel PORCN variant and a review of the literature

2018 ◽  
Vol 6 (11) ◽  
pp. 2103-2110 ◽  
Author(s):  
Sofia Frisk ◽  
Catherine Grandpeix-Guyodo ◽  
Karin Popovic Silwerfeldt ◽  
Helgi Thor Hjartarson ◽  
Dimitris Chatzianastassiou ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Report ◽  
Review Of The Literature ◽  
Goltz Syndrome

Ring 21 chromosome presenting with epilepsy and intellectual disability: Clinical report and review of the literature

2011 ◽  
Vol 155 (4) ◽  
pp. 911-914 ◽  
Author(s):  
Nicola Specchio ◽  
Antonio Carotenuto ◽  
Marina Trivisano ◽  
Simona Cappelletti ◽  
Cristina Digilio ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Clinical Report ◽  
Review Of The Literature

Primary Intracranial Thalamic Leiomyosarcoma: Clinical Report of a Case and Review of the Literature

2014 ◽  
Vol 3 (4) ◽  
pp. 213-216
Author(s):  
Shunjiang Yu ◽  
◽  
Jing Jiang ◽  
Li Chen ◽  
Feng Gao ◽  
...  
Keyword(s):  
Clinical Report ◽  
Review Of The Literature

scholarly journals Ewing's sarcoma in female siblings: A clinical report and review of the literature

Cancer ◽  
1984 ◽  
Vol 53 (9) ◽  
pp. 1959-1962 ◽  
Author(s):  
Michael J. Joyce ◽  
David C. Harmon ◽  
Henry J. Mankin ◽  
Herman D. Suit ◽  
Alan L. Schiller ◽  
...  
Keyword(s):  
Ewing’S Sarcoma ◽  
Ewing's Sarcoma ◽  
Clinical Report ◽  
Review Of The Literature
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