Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

Nature ◽  
1995 ◽  
Vol 376 (6536) ◽  
pp. 145-149 ◽  
Author(s):  
C. Jones ◽  
L. Penny ◽  
T. Mattina ◽  
S. Yu ◽  
E. Baker ◽  
...  
Keyword(s):  
Fragile Site ◽  
Deletion Syndrome ◽  
Chromosome Deletion

scholarly journals Neurodegenerative changes detected by neuroimaging in a patient with contiguous X-chromosome deletion syndrome encompassing BTK and TIMM8A genes

2018 ◽  
Vol 43 (2) ◽  
pp. 139-147 ◽  
Author(s):  
Anna Szaflarska ◽  
Magdalena Rutkowska-Zapała ◽  
Anna Gruca ◽  
Katarzyna Szewczyk ◽  
Mirosław Bik-Multanowski ◽  
...  
Keyword(s):  
X Chromosome ◽  
Deletion Syndrome ◽  
Chromosome Deletion

scholarly journals Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes

2011 ◽  
Vol 56 (8) ◽  
pp. 577-582 ◽  
Author(s):  
Takashi Arai ◽  
Meina Zhao ◽  
Hirokazu Kanegane ◽  
Menno C van Zelm ◽  
Takeshi Futatani ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
X Chromosome ◽  
Deletion Syndrome ◽  
Chromosome Deletion

Physical linkage of the fragile site FRA11B and a Jacobsen Syndrome chromosome deletion breakpoint in 11q23. 3

1994 ◽  
Vol 3 (12) ◽  
pp. 2123-2130 ◽  
Author(s):  
Christopher Jones ◽  
Predrag Slljepcevic ◽  
Sharon Marsh ◽  
Elizabeth Baker ◽  
Wallace Y. Langdon ◽  
...  
Keyword(s):  
Fragile Site ◽  
Deletion Breakpoint ◽  
Chromosome Deletion ◽  
Jacobsen Syndrome ◽  
Physical Linkage

Interstitial deletion of (17)(p11.2p11.2): Report of six additional patients with a new chromosome deletion syndrome

1986 ◽  
Vol 24 (3) ◽  
pp. 421-432 ◽  
Author(s):  
Robert F. Stratton ◽  
William B. Dobyns ◽  
Frank Greenberg ◽  
Jeanne B. DeSana ◽  
Charleen Moore ◽  
...  
Keyword(s):  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
Chromosome Deletion

Contiguous X-chromosome Deletion Syndrome Encompassing the BTK, TIMM8A, TAF7L, and DRP2 Genes

2007 ◽  
Vol 27 (6) ◽  
pp. 640-646 ◽  
Author(s):  
Anna Šedivá ◽  
C. I. Edvard Smith ◽  
A. Charlotta Asplund ◽  
Jan Hadač ◽  
Aleš Janda ◽  
...  
Keyword(s):  
X Chromosome ◽  
Deletion Syndrome ◽  
Chromosome Deletion

Constitutional 11q14-q22 chromosome deletion syndrome in a child with neuroblastoma MYCN single copy

2013 ◽  
Vol 56 (11) ◽  
pp. 626-634 ◽  
Author(s):  
Annalisa Passariello ◽  
Daniele De Brasi ◽  
Raffaella Defferrari ◽  
Rita Genesio ◽  
Maria Tufano ◽  
...  
Keyword(s):  
Single Copy ◽  
Deletion Syndrome ◽  
Chromosome Deletion

scholarly journals Deletion of 7q33-q35 in a Patient with Intellectual Disability and Dysmorphic Features: Further Characterization of 7q Interstitial Deletion Syndrome

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Kristen Dilzell ◽  
Diana Darcy ◽  
John Sum ◽  
Robert Wallerstein
Keyword(s):  
Intellectual Disability ◽  
Interstitial Deletion ◽  
Deletion Syndrome ◽  
Comparative Genomic ◽  
Facial Features ◽  
Chromosome Deletion ◽  
Recent Onset ◽  
Dysmorphic Features ◽  
7Q Deletion

This case report concerns a 16-year-old girl with a 9.92 Mb, heterozygous interstitial chromosome deletion at 7q33-q35, identified using array comparative genomic hybridization. The patient has dysmorphic facial features, intellectual disability, recurrent infections, self-injurious behavior, obesity, and recent onset of hemihypertrophy. This patient has overlapping features with previously reported individuals who have similar deletions spanning the 7q32-q36 region. It has been difficult to describe an interstitial 7q deletion syndrome due to variations in the sizes and regions in the few patients reported in the literature. This case contributes to the further characterization of an interstitial distal 7q deletion syndrome.

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