De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly

American Journal of Medical Genetics

Volumn 108, Issue 2, 2002, Pages 153-159

  Aboura, A ^a   Coulomb L'Hermine A ^a   Audibert, F ^a   Capron, F ^a   Frydman, R ^a   Tachdjian, G ^a  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

Author keywords

Camptodactyly; Comparative genomic hybridization; Duplication; Pierre Robin sequence; Prenatal diagnosis; Trisomy 1q

Indexed keywords

APOPTOSIS; ARTHROGRYPOSIS; ARTICLE; AUTOPSY; CAMPTODACTYLY; CHROMOSOME 1Q; CHROMOSOME DUPLICATION; CYTOGENETICS; FETUS; GENE MAPPING; HUMAN; HYDRAMNIOS; KARYOTYPE; MICROGNATHIA; MOTONEURON; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; SPINAL CORD VENTRAL HORN; TRISOMY;

CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 1; FATAL OUTCOME; FETAL DEATH; GENE DUPLICATION; HAND DEFORMITIES, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; PIERRE ROBIN SYNDROME;

EID: 0036499044     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10219     Document Type: Article

References (40)

1. Confirmation of proximal 1q duplication using fluorescence in situ hybridization
2. Trisomy 1q42-qter. Confirmation of a syndrome
3. Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2
4. Robin sequences and complexes: Causal heterogeneity and pathogenic/phenotypic variability
5. Le syndrome de Pierre Robin classification et nouvelle approche thérapeutique
6. Detection of a de novo duplication of 1q32-qter by fluorescence in situ hybridization in a boy with multiple malformations: Further delineation of the trisomy 1q syndrome
7. Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization
8. Small terminal deletion of 1p and duplication of 1q: Cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years
9. Partial trisomy 1q due to tandem duplication
10. Partial distal 1q trisomy. A distinct clinical dysmorphic syndrome in adulthood
11. Proximal trisomy 1q in a girl with developmental delay and minor anomalies
12. Partial monosomy or trisomy resulting from crossing-over within a rearranged chromosome 1
13. The common features of patients with partial trisomy of the long arm of chromosome 1
14. Trisomy 1 in a clinically recognized pregnancy
15. Duplication of the distal part of the long arm of chromosome 1
16. Dup(1q)(q42-qter) syndrome: Case report and review of literature
17. Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to partial 1q duplication and possible 18p deletion: A study of four individuals in two families
18. Zygodactyly as the most striking physical anomaly in an adult with pure partial trisomy 1q
19. De novo duplication 1q32-q42: Variability of phenotypic features in partial 1q trisomics
20. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome
21. Robin sequence and a deficiency of the left forearm in a girl with a deletion of chromosome 4q33-qter
22. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype
23. Partial trisomy 1 due to a "shift" and probable location of the Duffy (Fy) locus
24. Meiotic consequences of an intra-chromosomal insertion of chromosome No. 1: A family pedigree
25. Beyond Pierre Robin sequence
26. Distal limb anomalies, Robin sequence, and deletions in 4q31-qter
27. Partial duplication 1q: Report of four patients and review of the literature
28. Partial trisomy 1q
29. Neurophysiological brainstem investigations in isolated Pierre Robin sequence
30. Clinical variability of partial duplication 1q: A clinical report and literature review
31. Possible trisomy 1q25-q32 in a malformed girl with a de novo insertion of 1q
32. Partial trisomy 1q with growth hormone deficiency and normal intelligence
33. Boy with an interstitial 1q(q31q41) duplication confirmed by fluorescent in situ hybridization
34. The enigma of common fragiles sites
35. Partial trisomy of the long arm of human chromosome 1 as demonstrated by in situ hybridization with 5S ribosomal RNA
36. Trisomy 1q42-qter in a sister and brother: Further delineation of the trisomy 1q42-qter syndrome
37. Pierre Robin sequence and severe mental retardation with chaotic behavior associated with a small interstitial deletion in the long arm of chromosome 2 (del(2)(q331q333))
38. Monozygotic twins discordant for partial trisomy 1
39. Trisomy 1 in an eight cell human pre-embryo
40. Reduced phenotypic effect of partial trisomy 1q in a X/1 translocation