8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features.

Tytuł:: 8p23.2p22 deletion: a case report of a large deletion encompassing 8p23.1 with additional clinical features.
Autorzy:: LaBranche JTN; Departments of Medical Genetics.; Pediatrics, University of Calgary.
Argiropoulos B; Departments of Medical Genetics.; Cytogenetics Laboratory, Alberta Public Laboratories, Calgary, Alberta, Canada.
Thomas MA; Departments of Medical Genetics.; Pediatrics, University of Calgary.
Źródło:: Clinical dysmorphology [Clin Dysmorphol] 2020 Oct; Vol. 29 (4), pp. 207-209.
Typ publikacji:: Case Reports; Journal Article
Język:: English
Imprint Name(s):: Publication: London : Lippincott Williams & Wilkins
Original Publication: London, UK : Chapman & Hall, c1992-
MeSH Terms:: Chromosome Deletion*
Chromosomes, Human, Pair 8*
Genetic Association Studies*
Phenotype*
Chromosome Disorders/*diagnosis
Chromosome Disorders/*genetics
Child ; Chromosomes, Human, Pair 2 ; Comparative Genomic Hybridization ; Facies ; Genetic Testing ; Humans ; Male
SCR Disease Name:: Chromosome 2, monosomy 2p22
Entry Date(s):: Date Created: 20200803 Date Completed: 20210614 Latest Revision: 20210614
Update Code:: 20240105
DOI:: 10.1097/MCD.0000000000000338
PMID:: 32740052
: Czasopismo naukowe

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