A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15)

Cytogenetics and Cell Genetics

Volumn 91, Issue 1-4, 2000, Pages 192-198

  Passarge, E ^a  

^a UNIVERSITY HOSPITAL ESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME DELETION; CLINICAL FEATURE; FACE DYSMORPHIA; FEMALE; GENETIC DISORDER; HUMAN; MENTAL CAPACITY; PHENOTYPE; PRIORITY JOURNAL; SPEECH DEVELOPMENT;

EID: 0034487876     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000056843     Document Type: Article

References (24)

1. The novel contiguous gene syndrome of myotubular myopathy (MTM1), male hypogenitalism and deletion in Xq28: Report of the first familial case
2. Karyotype-phenotype correlations: Chromosome 6 region q13q16
3. A de novo interstitial deletion of band q21 on chromosome 6
4. Aneusomie de recombinaison: Three further examples
5. Interstitial deletion (6)q 13q15
6. A de novo 6q11→q15 duplication investigated by chromosome painting
7. New insights into the phenotypes of 6q deletions
8. Proximal interstitial 6q deletion: A recognizable syndrome
9. A malformed girl with a de novo proximal 6q deletion
10. Congenital anomalies including the VATER association in a patient with a del(6)q deletion
11. Deletion 6q14 in a patient with a de novo inversion 6(p11.2;q15)
12. Familial complex chromosomal rearrangement resulting in duplication/deletion of 6q14 to 6q16
13. Monosomy 6q1: Syndrome delineation
14. Ocular albinism in a male with del (6)(q13→q15): Candidate region for autosomal recessive ocular albinism?
15. Interstitial deletion of chromosome 6q: Precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting
16. The phenotype in de novo and familial pericentric inversion 6. A problem in karyotype-phenotype correlation
17. Interstitial deletion (6)(q11q15) in an infant with congenital abnormalities
18. 6q1 monosomy: A distinctive syndrome
19. Monosomy 6q: Report on four new cases
20. De novo interstitial deletion q16.2q21 on chromosome 6
21. Deletion of proximal 6q: A clinical report and review of the literature
22. Deletions of the long arm of chromosome 6: Two new cases and review of the literature