Multiple desmoplastic Spitz nevi with BRAF fusions in a patient with ring chromosome 7 syndrome

2021 ◽  
Author(s):  
Simon F. Roy ◽  
Boris C. Bastian ◽  
Sheilagh Maguiness ◽  
Alessio Giubellino ◽  
Swapna Vemula ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 7 ◽  
Spitz Nevi ◽  
Ring Chromosome 7

scholarly journals A case of lenalidomide-dependent myelodysplastic syndrome

2017 ◽  
Vol 1 (16) ◽  
pp. 1238-1242
Author(s):  
Ira J. Miller ◽  
Wei-Tong Hsu ◽  
James Weisberger ◽  
Parameswaran Venugopal
Keyword(s):  
Myelodysplastic Syndrome ◽  
Ring Chromosome ◽  
Chromosome 7 ◽  
Key Points ◽  
Ring Chromosome 7

Key Points A man with cytopenias, dysplasia, excess blasts, P53 and RUNX1 mutations, and ring chromosome 7 recovered after stopping lenalidomide.

Cutaneous Findings in Ring Chromosome 7 Syndrome

Dermatology ◽  
1993 ◽  
Vol 186 (2) ◽  
pp. 84-87 ◽  
Author(s):  
Vollenweider Rotern ◽  
I. Masouyé ◽  
C.D. Delozier-Blanchet ◽  
J.-H. Saurat
Keyword(s):  
Ring Chromosome ◽  
Chromosome 7 ◽  
Ring Chromosome 7

Ring chromosome 7: Report of the fifth case

1990 ◽  
Vol 149 (7) ◽  
pp. 475-476 ◽  
Author(s):  
G. M. Caramia ◽  
A. Baroncini ◽  
P. Osimani ◽  
A. Forabosco
Keyword(s):  
Ring Chromosome ◽  
Chromosome 7 ◽  
Ring Chromosome 7

Ring Chromosome 7: Report of a Case

1988 ◽  
Vol 30 (4) ◽  
pp. 517-519 ◽  
Author(s):  
Jun Kohyama ◽  
Seiichi Watanabe ◽  
Masaki Nakajima ◽  
Hirosi Suzumura ◽  
Toshihiko Ishikawa ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 7 ◽  
Ring Chromosome 7

Case of ring chromosome 7: The first report of neuropathological findings

1993 ◽  
Vol 46 (6) ◽  
pp. 632-635 ◽  
Author(s):  
Hiroko Tsukamoto ◽  
Norio Sakai ◽  
Masako Taniike ◽  
Mitsuto Nakatsukasa ◽  
Wataru Yoshiwara ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 7 ◽  
First Report ◽  
Ring Chromosome 7

Ring syndrome caused by ring chromosome 7 without loss of subtelomeric sequences

2002 ◽  
Vol 62 (5) ◽  
pp. 415-417 ◽  
Author(s):  
JR Vermeesch ◽  
E Baten ◽  
J-P Fryns ◽  
K Devriendt
Keyword(s):  
Ring Chromosome ◽  
Chromosome 7 ◽  
Ring Chromosome 7

Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7

2014 ◽  
Vol 164 (7) ◽  
pp. 1765-1769 ◽  
Author(s):  
Consuelo Salas-Labadía ◽  
David E. Cervantes-Barragán ◽  
Roberto Cruz-Alcívar ◽  
Robert D. Daber ◽  
Laura K. Conlin ◽  
...  
Keyword(s):  
Ring Chromosome ◽  
Chromosome 7 ◽  
Phenotypic Analysis ◽  
Monosomy 7 ◽  
Low Level ◽  
Ring Chromosome 7

scholarly journals First Trimester Diagnosis of Holoprosencephaly Secondary to a Ring Chromosome 7

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Lindsay B. Henderson ◽  
Virginia L. Corson ◽  
Daniel O. Saul ◽  
Cynthia Anderson ◽  
Sarah Millard ◽  
...  
Keyword(s):  
Array Comparative Genomic Hybridization ◽  
Ring Chromosome ◽  
First Trimester ◽  
Chromosome 7 ◽  
Growth Delay ◽  
Comparative Genomic ◽  
Developmental Defect ◽  
Chorionic Villi ◽  
Ultrasound Evaluation ◽  
Ring Chromosome 7

Holoprosencephaly (HPE) is a developmental defect in humans in which the forebrain fails to completely separate into two hemispheres. We describe a 12 3/7-week-old fetus found on ultrasound evaluation to have features consistent with HPE, including a single anterior ventricle, fused thalami, and a flattened profile. Cytogenetic analysis of chorionic villi revealed a ring chromosome 7 [r(7)]. This uncommon finding has been associated with growth delay, microcephaly, and dermatologic abnormalities. However, both the clinical features and the extent of cytogenetic imbalance of chromosome 7 are variable, and few reported cases of r(7) have been molecularly studied. To our knowledge, this is the first report of a prenatally identified r(7), molecularly characterized using array comparative genomic hybridization.

Sign in / Sign up

Export Citation Format

Share Document