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© A-M. Pais-Correia, M-I. Thoulouze, A. Alcover, A. Gessain
Mise en évidence de structures de type "biofilm ", formées par le rétrovirus HTLV-1 générés par des cellules infectées (cellules du haut), qui ont été transmis à un autre lymphocyte (cellule du bas). Micrographie en microscopie électronique à balayage. Image colorisée.
Publication : American journal of medical genetics. Part A

Kaposi sarcoma, oral malformations, mitral dysplasia, and scoliosis associated with 7q34-q36.3 heterozygous terminal deletion

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in American journal of medical genetics. Part A - 09 May 2017

Jackson CC, Lefèvre-Utile A, Guimier A, Malan V, Bruneau J, Gessain A, Cassar O, Amiel J, Cobat A, Rattina V, Abel L, Casanova JL, Blanche S

Link to Pubmed [PMID] – 28488400

Am. J. Med. Genet. A 2017 May;

Chromosome 7 germline macrodeletions have been implicated in human congenital malformations and developmental delays. We herein report a novel heterozygous macrodeletion of 7q34-q36.3 in a 16-year-old girl originally from West Indies. Similar to previously reported cases of germline chromosome 7q terminal deletions, our patient has dental malposition, and developmental (growth and intellectual) delay. Novel phenotypic features include endemic Kaposi sarcoma (KS), furrowed tongue, thoracolumbar scoliosis, and mild mitral valve dysplasia. The occurrence of human herpes virus 8-driven KS, in a child otherwise normally resistant to other infectious agents and without any other tumoral lesion, points to a very selective immunodeficiency. While defects in organogenesis have been described with such macrodeletions, this is the first report of immunodeficiency and cancer predisposition.

https://www.ncbi.nlm.nih.gov/pubmed/28488400