CHARGE association in a child with de novo inverted duplication (14) (q22{r_arrow}q24.3)

Journal Article · Mon Jul 17 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320570419· OSTI ID:102897

North, K N; Wu, Bai Lin; Cao, B N ^[1]

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1. Children`s Hospital, Boston, MA (United States); and others

We report on a 4-{1/2} year old girl with apparent CHARGE association who had a de novo inverted duplication (14) (q22{r_arrow}24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures. Family history was unremarkable and parental chromosomes were normal. Similarities between this and previously reported cases of 14q duplication suggest that a locus for a gene or genes causing some of the anomalies of CHARGE association may reside in the region 14q22 to 24.3. 26 refs., 2 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 102897
• Journal Information: American Journal of Medical Genetics, Vol. 57, Issue 4; Other Information: PBD: 17 Jul 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 14
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
PATIENTS
PHENOTYPE
CONGENITAL MALFORMATIONS
MENTAL DISORDERS
SENSE ORGANS DISEASES
GENES
DNA HYBRIDIZATION
FLUORESCENCE