Identification and molecular confirmation of a small chromosome 10q duplication [dir dup(10)(q24.2 {r_arrow}q24.3)] inherited from a mother mosiac for the abnormality

Journal Article · Mon Jan 01 23:00:00 EST 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<16::AID-AJMG3>3.0.CO;2-V· OSTI ID:447697

Tonk, V; Schneider, N R; Schultz, R A; Delgado, M R ^[1]; Mao, Jen-i ^[2]

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1. Univ. of Texas Southwestern Medical Center, Dallas, TX (United States)
2. Collaborative Research, Waltham, MA (United States)

We describe a family in which two siblings exhibited developmental delay, reduced muscle tone and mild muscle weakness. Cytogenetic evaluation demonstrated that both children had a tandem duplication of a small portion of the long arm of chromosome 10 [46,XX or XY, dir dup(10)(q24.2{r_arrow}q24.3)], inherited from their clinically normal mother, who was found to be mosaic for the duplicated chromosome 10. Fluorescence in situ hybridization approaches, including total chromosome painting and the use of regional specific cosmid probes, were used to confirm the chromosome 10q origin of the duplicated material. This is the smallest confirmed duplication of this portion of chromosome 10 reported to date. 28 refs., 4 figs.

• OSTI ID: 447697
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 1 Vol. 61; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
CHROMOSOMAL ABERRATIONS
DNA HYBRIDIZATION
FLUORESCENCE
GENETIC MAPPING
GENETICS
HEREDITARY DISEASES
HUMAN CHROMOSOMES
MOSAICISM
PATIENTS
PROBES