Krista M Vincent, Bradley Prince, McGowan-Jordan Jean, Melissa T Carter
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引用次数: 0
Abstract
Terminal deletions of chromosome 14q are characterized by a spectrum of phenotypes that can include microcephaly, growth deficiency, intellectual disability, characteristic facial features, and various congenital anomalies. The rarity of this syndrome, together with the broad spectrum of phenotypes, has made genotype-phenotype correlations difficult. Herein, we describe a family with the core features of the condition and a heterozygous 3.7 Mb deletion at 14q32.32qter. To our knowledge, this is the first case of vertical transmission of a terminal 14q deletion. In addition to this case, we review 19 previously reported individuals. Additional descriptions of individuals with terminal 14q deletions will help to fully characterize the phenotypic spectrum and define the natural history of this condition.
期刊介绍:
The European Journal of Medical Genetics (EJMG) is a peer-reviewed journal that publishes articles in English on various aspects of human and medical genetics and of the genetics of experimental models.
Original clinical and experimental research articles, short clinical reports, review articles and letters to the editor are welcome on topics such as :
• Dysmorphology and syndrome delineation
• Molecular genetics and molecular cytogenetics of inherited disorders
• Clinical applications of genomics and nextgen sequencing technologies
• Syndromal cancer genetics
• Behavioral genetics
• Community genetics
• Fetal pathology and prenatal diagnosis
• Genetic counseling.