Silver-Russell phenotype in a patient with pure trisomy 1q32.1-q42.1: Further delineation of the pure 1q trisomy syndrome

Journal of Medical Genetics

Volumn 39, Issue 8, 2002, Pages 582-585

  Van Haelst, M M ^a   Eussen, H J F M M ^a   Visscher, F ^d   De Ruijter, J L M ^a   Drop, S L S ^b   Lindhout, D ^c   Wouters, C H ^a   Govaerts, L C P ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d Oosterschelde Hospital   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 1Q; CLINICAL EXAMINATION; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; SYNDROME DELINEATION; TRISOMY;

EID: 0036347823     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.39.8.582     Document Type: Article

References (20)

1. Genetics of Silver-Russell syndrome
2. Zygodactyly as the most striking physical anomaly in an adult male patient with pure partial trisomy 1q
3. De novo duplication 1q32-q42: Variability of phenotypic features in partial 1q trisomics
4. De novo dir dup (1)(q3200→4200) in an adult. Further delineation of the pure 1q trisomy syndrome
5. A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation
6. Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization
7. Detection of complete and partial chromosome gains and losses by comparative genomic in situ hybridization
8. Autistic symptoms among children and young adults with isodicentric chromosome 15
9. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
10. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
11. Dup(1q)(q42-qter) syndrome: Case report and review of the literature
12. Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridisation with 5S ribosomal RNA
13. Partial trisomy 1q due to tandem duplication
14. Congenital ocular defects associated with an abnormality of the human chromosome 1: Trisomy 1q32-qter
15. Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridisation in a boy with multiple malformations: Further delineation of the trisomy 1q syndrome
16. Anterior segment dysgenesis and congenital glaucoma associated with partial trisomy of chromosome 1 (1q32-qter)
17. Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization
18. Partial duplication 1q: Report of four patients and review of the literature
19. Partial trisomy 1q (1q32-1qter) in adulthood: Further delineation of the phenotype
20. No evidence of dup(7)(p1 1.2p 13) in Silver-Russell syndrome