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Author Peterson, Jess F. ♦ Ghaloul-Gonzalez, Lina ♦ Madan-Khetarpal, Suneeta ♦ Hartman, Jessica ♦ Surti, Urvashi ♦ Rajkovic, Aleksandar ♦ Yatsenko, Svetlana A.
Source World Health Organization (WHO)-Global Index Medicus
Content type Text
Publisher Wiley-Blackwell
File Format HTM / HTML
Language English
Difficulty Level Medium
Subject Domain (in DDC) Natural sciences & mathematics ♦ Chemistry & allied sciences ♦ Life sciences; biology ♦ Physiology & related subjects ♦ Biochemistry ♦ Genetics and evolution ♦ Natural history of organisms ♦ Technology ♦ Medicine & health ♦ Human anatomy, cytology, histology ♦ Human physiology ♦ Pharmacology and therapeutics ♦ Diseases ♦ Manufacture for specific uses ♦ Precision instruments & other devices
Subject Domain (in MeSH) Cells ♦ Anatomy ♦ Eukaryota ♦ Organisms ♦ Musculoskeletal Diseases ♦ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ♦ Pathological Conditions, Signs and Symptoms ♦ Diseases ♦ Amino Acids, Peptides, and Proteins ♦ Chemicals and Drugs ♦ Investigative Techniques ♦ Analytical, Diagnostic and Therapeutic Techniques and Equipment ♦ Genetic Phenomena ♦ Biological Sciences ♦ Persons ♦ Persons
Subject Keyword Discipline Human ♦ Discipline Genetics ♦ Chromosome Duplication ♦ Chromosomes, Human, Pair 17 ♦ Clubfoot ♦ Genetics ♦ Penetrance ♦ T-box Domain Proteins ♦ Abnormalities, Multiple ♦ Diagnosis ♦ Comparative Genomic Hybridization ♦ Female ♦ Humans ♦ Infant, Newborn ♦ Male ♦ Pedigree ♦ Phenotype ♦ Case Reports ♦ Journal Article
Abstract Congenital clubfoot is a heterogeneous disorder that can result in functional disability, deformity, and pain if left untreated. Although the etiology is considered multifactorial in the majority of cases, a 17q23.1­q23.2 duplication has been reported in families with congenital clubfoot characterized by variable expressivity and incomplete penetrance. The candidate gene within the duplicated region is TBX4, a T-box transcription factor required for normal hind limb development. We describe a familial 2.15 Mb duplication in the 17q23.1­q23.2 region identified in a mother, daughter, and two sons. The male proband was referred for genetic evaluation due to multiple congenital anomalies including bilateral clubfoot, dysplastic hips, multiple heart defects, microcephaly, midfacial hypoplasia, brain anomalies on MRI scan, seizure disorder, optic nerve hypoplasia, hearing loss, and bilateral vocal cord paralysis. Cytogenetic testing on family members identified the 17q23.1­q23.2 duplication in both older siblings and the mother. In this family both male siblings had clubfoot, while females were phenotypically normal. Although TBX4 remains the candidate gene for congenital clubfoot involving 17q23.1­q23.2 duplications, the explanation for variable expressivity and penetrance remains unknown.
ISSN 15524825
Educational Role Student ♦ Teacher
Age Range above 22 year
Educational Use Reading ♦ Research ♦ Self Learning
Interactivity Type Expositive
Education Level UG and PG
Learning Resource Type Article ♦ Case study
Publisher Date 2014-02-01
Publisher Place United States
e-ISSN 15524833
Journal American Journal of Medical Genetics Part A
Volume Number 164A
Issue Number 2


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Source: WHO-Global Index Medicus