Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization

Journal Article · Mon Sep 11 04:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320580307· OSTI ID:450740

Guo, Wen-Jun; Callif-Daley, F; Zapata, M C; Miller, M E ^[1]

---

1. Children`s Medical Center, Dayton, OH (United States)

We report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2-p23. The phenotype of inv dup (8p) compiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis of the corpus callosum (80%), hypotonia (66%), orthopedic abnormalities (58%), scoliosis/kyphosis (40%), and congenital heart defect (26%). A telomeric deletion of region 8p23.3-pter was confirmed in 3 of our cases studied using fluorescent in situ hybridization with a telomeric probe for 8p. Thus, these karyotypes are inv dup del(8) (qter{r_arrow} p23.1::p23.1{r_arrow}p11.2:). Our findings suggest that most cases of inv dup(8p) probably have a telomeric deletion. 20 refs., 4 figs., 2 tabs.

• Sponsoring Organization: USDOE
• OSTI ID: 450740
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 58; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
BANDING TECHNIQUES
CHROMOSOMAL ABERRATIONS
CONGENITAL MALFORMATIONS
CROSSING-OVER
DNA HYBRIDIZATION
FLUORESCENCE
GENETIC MAPPING
HEREDITARY DISEASES
HUMAN CHROMOSOME 8
KARYOTYPE
MENTAL DISORDERS
MITOSIS
MUTATIONS
PATIENTS
PHENOTYPE
PROBES
TELOMERES