De novo direct duplication of chromosome segment 22q11.2-q13.1

Journal Article · Fri Mar 29 00:00:00 EST 1996 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<300::AID-AJMG19>3.3.CO;2-3· OSTI ID:426146

Fujimoto, Atsuko; Lin, Ming S ^[1]

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1. Univ. of Southern California, Los Angeles, CA (United States)

Lindsay et al. [1995] reported a case of de novo duplication of the segment 22q11-q12. Molecular cytogenetics studies showed that the segment includes the regions responsible for the {open_quotes}cat eye,{close_quotes} DiGeorge, and velo-cardio-facial syndrome, and extends distal to the breakpoint cluster region. The phenotype was milder than that of complete trisomy 22 and der(22)t(11;22) (q23;q11) syndrome and was similar in type and severity to that of {open_quotes}cat eye{close_quotes} syndrome (CES). They suggested that trisomy of gene(s) responsible for the CES might have a predominant phenotypic effect over other genes present in the region duplicated in their patient. 3 refs., 2 figs.

• OSTI ID: 426146
• Journal Information: American Journal of Medical Genetics, Vol. 62, Issue 3; Other Information: PBD: 29 Mar 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 22
CHROMOSOMAL ABERRATIONS
GENETIC MAPPING
HEREDITARY DISEASES
DIAGNOSIS
PATIENTS
CONGENITAL MALFORMATIONS
PHENOTYPE
MENTAL DISORDERS
GENES
GENE MUTATIONS
BANDING TECHNIQUES
PROBES
BIOLOGICAL MARKERS
DNA HYBRIDIZATION
FLUORESCENCE