Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/interstitial-deletion-13q33-resulting-from-maternal-insertional-f0ukj9g8qk
References (23)
-
M. Wilson, A. Ebbin, J. Towner, W. Spencer (1977)
Chromosomal anomalies in patients with retinoblastomaClinical Genetics, 12
-
N. Dennis, R. Neu, R. Bannerman, U. Francke (1978)
Duplication 2q33→2q37 due to paternal ins (12;2) translocationAmerican Journal of Medical Genetics, 1
-
R. Coco, G. Rey (1978)
Partial Trisomies and Deletions of Chromosome 13Pediatric Research, 12
-
E. Orye, M. Delbeke, B. Vandenabeele (1974)
Retinoblastoma and long arm deletion of chromosome 13. Attempts to define the deleted segmentClinical Genetics, 5
-
U. Francke (1976)
Retinoblastoma and chromosome 13.Birth defects original article series, 12 7
-
M. Wilson, J. Towner, A. Fujimoto (1973)
Retinoblastoma and D-chromosome deletions.American journal of human genetics, 25 1
-
D. Hopkinson, M. Mestriner, J. Cortner, H. Harris (1973)
Esterase D: a new human polymorphismAnnals of Human Genetics, 37
-
B. Emanuel (1978)
Compound lateral asymmetry in human chromosome 6:BrdU-dye studies of 6q12-->6q14.American journal of human genetics, 30 2
-
E. Grace, G. Sutherland, A. Bain (1972)
Familial insertional translocation.Lancet, 2 7770
-
J. Yunis, N. Ramsay (1978)
Retinoblastoma and subband deletion of chromosome 13.American journal of diseases of children, 132 2
-
L. Shapiro, D. Warburton (1972)
Interstitial translocation in man.Lancet, 2 7779
-
A. Chudley, F. Bauder, M. Ray, P. McAlpine, S. Peña, J. Hamerton (1974)
Familial mental retardation in a family with an inherited chromosome rearrangementJournal of Medical Genetics, 11
-
(1977)
Trisomie partielle pour le bras long du chromosome 2 par rnalsCgrCgation d’une insertion maternelle: ins (6;2)(p22;q24q34) -
P. Jacobs, M. Melville, S. Ratcliffe, A. Keay, J. Syme (1974)
A cytogenetic survey of 11,680 newborn infantsAnnals of Human Genetics, 37
-
(1977)
letion long arm 13 -
R. Howard, W. Breg, D. Albert, R. Lesser (1974)
Retinoblastoma and chromosome abnormality. Partial deletion of the long arm of chromosome 13.Archives of ophthalmology, 92 6
-
E. Robson, D. Hopkinson, K. Buckton, J. Robinson, P. Polani (1976)
Family studies on esterase D and chromosome 13 in man.Cytogenetics and cell genetics, 16 1-5
-
(1972)
Trisomie pour la partie distale du bras court du chromosome 3 chez trois Germains -
Cytogenetic Laboratory The Children's Hospital of Philadelphia 34th and Civic Center -
B. Noel, B. Quack, M. Rethoré (1976)
Partial deletions and trisomies of chromosome 13; Mapping of bands associated with particular malformationsClinical Genetics, 9
-
K. Berger, G. Touati, J. Derré, M. Ortiz, J. Martinetti (1974)
“Cri du chat” syndrome with maternal insertional translocationClinical Genetics, 5
-
A. Knudson, A. Meadows, W. Nichols, R. Hill (1976)
Chromosomal deletion and retinoblastoma.The New England journal of medicine, 295 20
-
P. Coates, M. Mestrjner, D. Hopkinson (1975)
A preliminary genetic interpretation of the esterase isozymes of human tissuesAnnals of Human Genetics, 39
- Publisher
- Wiley
- Copyright
- 1979 Blackwell Munksgaard
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- DOI
- 10.1111/j.1399-0004.1979.tb01013.x
- Publisher site
- See Article on Publisher Site
Abstract
A 32-month-old female with a unique interstitial deletion of 13q is presented, including cytogenetic and gene marker studies. The deleted 13 in the patient is a result of malsegre-gation of a maternal insertional translocation involving chromosomes 7 and 13, 46, XX, ins (7;13)(q22;q32q34). The demonstration of two esterase D alleles in this patient excludes band 13q33 as the site of the ESD locus, previously assigned to the distal long arm of chromosome 13. The BUdR dye studies reveal that the replicative pattern for 13q31 and 13q21 is not altered by deletion of 13q33 and permit precise delineation of the breakpoints of the rearrangement.
Journal
Clinical Genetics – Wiley
Published: Nov 1, 1979
Keywords: Chromosome 13; developmental delay; esterase D; insertional translocation; interstitial deletion