Access the full text.
Sign up today, get DeepDyve free for 14 days.
M. Kistenmacher, H. Punnett (1970)
Comparative behavior of ring chromosomes.American journal of human genetics, 22 3
M. Shokeir, K. Ying, P. Pabello (1973)
Deletion of the long arm of chromosome no. 7: Tentative assignment of the Kidd (Jk) LocusClinical Genetics, 4
S. Nakano, Nariaki Miyamoto (1977)
A ring C7 chromosome in a mentally and physically retarded male with various somatic abnormalitiesJapanese Journal of Human Genetics, 22
Dhadial (1979)
Terminal 7p deletion and 1;7 translocation associated with craniosynostosisHum. Genet., 50
Karen Nielsen, F. Egede, Ingelise Mouridsen, J. Mohr (1979)
Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.Journal of Medical Genetics, 16
B. Mcclintock (1938)
The Production of Homozygous Deficient Tissues with Mutant Characteristics by Means of the Aberrant Mitotic Behavior of Ring-Shaped Chromosomes.Genetics, 23 4
N. Ayraud, J. Rovinski, J. Lambert, A. Galiana (1976)
Délétion interstitielle du bras long d'un chromosome 7 chez une enfant lepréchauneAnnales De Genetique, 19
(1981)
La monosomie 7 qter : A propos d ’ une observation
(1973)
Two different chromosome abnormalities
E. Harris, R. Wappner, Catherine Palmer, Bryan Hall, Nuhad Dinno, M. Seashore, W. Breg (1977)
7q deletion syndrome (7q32→7qter)Clinical Genetics, 12
M. Crawfurd, I. Kessel, M. Liberman, J. McKeown, P. Mandalia, M. Ridler (1979)
Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.Journal of Medical Genetics, 16
(1973)
Ring chromosome 7 with variable phenotypic exprcasioii t I
Grouchy (1974)
Tentative localization of a Hageman (Factor XII) locus on 7q, probably the 7q35 bandHum. Genet., 24
(1979)
Monosomie 7 qter
Biedermann (1978)
Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7Hum. Genet., 41
M. Miller, G. Kaufman, G. Reed, R. Bilenker, A. Schinzel (1979)
Familial, balanced insertional translocation of chromosome 7 leading to offspring with deletion and duplication of the inserted segment, 7p15 leads to 7p21.American journal of medical genetics, 4 4
A. Carnevale, B. Blanco, J. Castillo, V. Castillo, David Dominguez, J. Opitz (1979)
Ring chromosome 6 in a child with minimal abnormalities.American journal of medical genetics, 4 3
(1980)
Two unrelated children
R. Bernstein, B. Dawson, Glynn Morcom, J. Wagner, T. Jenkins (1980)
Two unrelated children with distal long arm deletion of chromosome 7: clinical features, cytogenetic and gene marker studiesClinical Genetics, 17
H. Bass, B. Crandall, S. Marcy (1973)
Two different chromosome abnormalities resulting from a translocation carrier father.The Journal of pediatrics, 83 6
(1978)
An interstitial deletion on 7q in a female
J. Pater, J. Bijlsma, E. Bleeker-Wagemakers, H. France, C. Vries-Ekkers (1979)
Two cases with different deletions of the long arm of chromosome 7.Journal of Medical Genetics, 16
Franceschini (1978)
Interstitial deletion of the long arm of chromosome 7: 46,XX,del(7)(pter-q2200::q3200-qter)Hum. Genet., 44
L. Atkins, R. Sceery, M. Keenan (1966)
An unstable ring chromosome in a female infant with hypotonia, seizures, and retarded development.Journal of Medical Genetics, 3
Ayraud (1976)
Délétion interstitielle du bras long d'un chromosome 7 chez une enfant leprechauneAnn. Génét., 19
P. Franceschini, M. Silengo, G. Davi, M. Santoro, G. Prandi, C. Fabris (1978)
Interstitial deletion of the long arm of chromosome 7 46,XX,del(7)(pter leads to q2200::q3200 leads to qter).Human genetics, 44 3
(1979)
Familial partial 7 q monosomy resulting from segregation of an insertional chromosome arrangement
Grant Higginson, D. Weaver, R. Magenis, G. Prescott, C. Haag, Douglas Hepburn (1976)
Interstitial deletion of the long arm of chromosome no. 7 (7q‐) in an infant with multiple anomaliesClinical Genetics, 10
(1977)
Clinical Atlas uf Human Chromosomes
(1977)
A syndrome associated with interstitial deletion of chromosome 7 q
E. Zackai, W. Breg (1973)
Ring chromosome 7 with variable phenotypic expression.Cytogenetics and cell genetics, 12 1
J. Lambert, R. Mariani, M. Donzeau, M. Ferrari, P. Boutte, N. Ayraud (1981)
La monosomie 7qter. A propos d'une observation.Archives françaises de pédiatrie, 38
Friedrich (1979)
A girl with karyotype 46,XX,del(7)(pter-q32:)Hum. Genet., 51
J. Lejeune (1968)
De la duplication de structures circulaires.Annales De Genetique, 11
(1974)
Trisomie 9 p : Deux nouvelles observations
A partial long arm deletion of chromosome 7 : 46
M. Wilson, A. Fujimoto, N. Shinno, J. Towner (1973)
Giant satellites or translocation?Cytogenetics and cell genetics, 12 4
(1938)
The production of homozy
An 8-year-old child with a ring chromosome 7 is presented, the first female and the fourth such individual to be described. The associated anomalies were rather benign: she presented with short stature, minor skeletal alterations, and normal intelligence. The only truly striking feature was the presence of multiple large, pigmented naevi, suggestive of a hamartomatous origin, but unlike those typical of any particular syndrome. Though other ring 7 patients have had naevus flammeus, and one had cafk-au-lait spots, our proband is the first with an anomaly of chromosome 7 to have such extensive lesions. These four cases of ring 7, which show great phenotypic variation, are reviewed, and the clinical presentation of the proband is also compared with that of patients suffering from terminal, interstitial and translocation-derived 7p and 7q deletions. The formation and behaviour of ring chromosomes are discussed, as are the cytogenetic factors which may influence their phenotypic expression.
Clinical Genetics – Wiley
Published: Aug 1, 1982
Keywords: Chromosome 7 deletion; ring structure: skin lesions
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.