8q23-q24 duplication - Further delineation of a rare chromosomal abnormality

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 459-463

  Wheeler, Patricia G ^a  

^a NEMOURS CHILDREN S HOSPITAL   (United States)

Author keywords

8q duplication; CGH

Indexed keywords

N ACETYLGLUCOSAMINYLTRANSFERASE; PROTEIN EXT1; PROTEIN TRPS1; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ANAMNESIS; ARTICLE; ASTIGMATISM; CASE REPORT; CHILD; CHROMOSOME 8Q; CHROMOSOME ABERRATION; CHROMOSOME DUPLICATION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; FACE DYSMORPHIA; FEMALE; HIRSUTISM; HUMAN; HYPERTELORISM; KARYOTYPING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROGNATHIA;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; GENE DUPLICATION; HIRSUTISM; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MODELS, GENETIC;

EID: 75449101191     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33237     Document Type: Article

References (5)

1. Ergun MA, Balci S, Konac E, Kan D, Menevse S, Bartsch O. 2004. Trisomy of 8q22.3∼q23-qter following an unbalanced 1;8 translocation in a boy with multiple anomalies. Turkish J Pediatr 46:384-387.
2. Naritomi K, Hirayama K. 1989. Partial trisomy of distal 8q derived from mother with mosaic 8q23.3-24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I. Hum Genet 82:199-201.
3. Pfeiffer RA, Rauch A, Trautmann U, Dorr HG, Hiort O, Scherer G, Rosch G, Papadopoulos T, Hardt KVD, Lachmann E. 1999. Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat. Eur J Pediatr 158:213-216.
4. Shaffer LG, McCaskill C, Han JY, Choo KH, Cutillo DM, Donnenfeld AC, Weiss L, Van Dyke DC. 1994. Molecular characterization of de novo secondary trisomy 13. Am J Hum Genet 55:968-974.
5. Stengel-Rutkowski S, Lohse K, Herzog C, Apacik C, Couturier J, Albert A, Belohradsky B. 1992. Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: Phenotype analyses and reflections on the risk. Clin Genet 42:178-185.