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Author Peterson, Jess F. ♦ Hartman, Jessica ♦ Ghaloul-Gonzalez, Lina ♦ Surti, Urvashi ♦ Hu, Jie
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) Philosophy & psychology ♦ Psychology ♦ 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 ♦ Incidence & prevention of disease ♦ Pharmacology and therapeutics ♦ Diseases ♦ Manufacture for specific uses ♦ Precision instruments & other devices
Subject Domain (in MeSH) Cells ♦ Anatomy ♦ Eukaryota ♦ Organisms ♦ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ♦ Pathological Conditions, Signs and Symptoms ♦ Diseases ♦ Amino Acids, Peptides, and Proteins ♦ Chemicals and Drugs ♦ Diagnosis ♦ Investigative Techniques ♦ Analytical, Diagnostic and Therapeutic Techniques and Equipment ♦ Behavior and Behavior Mechanisms ♦ Psychiatry and Psychology ♦ Genetic Phenomena ♦ Biological Sciences ♦ Persons ♦ Persons
Subject Keyword Discipline Human ♦ Discipline Genetics ♦ Chromosome Deletion ♦ Chromosomes, Human, Pair 12 ♦ Homeodomain Proteins ♦ Genetics ♦ Multigene Family ♦ Phenotype ♦ Siblings ♦ Abnormalities, Multiple ♦ Diagnosis ♦ Child, Preschool ♦ Comparative Genomic Hybridization ♦ Humans ♦ In Situ Hybridization, Fluorescence ♦ Male ♦ Case Reports ♦ Journal Article
Abstract Microdeletions (12q13.13-q13.2) involving the HOXC gene cluster are rare. Only three patients with this contiguous deletion have been reported, all resulting in phenotypic features that include skeletal anomalies, facial dysmorphism, and intellectual disability. The deletion of the HOXC gene cluster is thought to result in skeletal anomalies in these patients. We report on siblings with a 969 kb deletion in the 12q13.13-q13.2 region detected by array comparative genomic hybridization (aCGH). This deletion spans seven of nine HOXC cluster genes. FISH analysis confirmed the siblings and mother were carriers of the 12q13.13-q13.2 deletion. Although minor facial dysmorphic features were present in both siblings, no skeletal anomalies were present in the siblings or the mother. The proband had autistic-like features and mild developmental delay, while the sibling and mother are of normal intelligence. The absence of skeletal anomalies in our family suggests that deletion of the entire HOXC gene cluster may be required to result in an abnormal skeletal phenotype, or those skeletal anomalies in previously reported patients may be attributed to other genes within the deletion interval.
Description Author Affiliation: Peterson JF ( Pittsburgh Cytogenetics Laboratory, Center for Medical Genetics and Genomics, Magee-Womens Hospital of UPMC, Pittsburgh, Pennsylvania)
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 2014-03-01
Publisher Place United States
e-ISSN 15524833
Journal American Journal of Medical Genetics Part A
Volume Number 164A
Issue Number 3


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Source: WHO-Global Index Medicus