Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.

2.50
Hdl Handle:
http://hdl.handle.net/10541/109832
Title:
Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.
Authors:
MacDermot, K D; Jack, E; Cooke, A; Turleau, C; Lindenbaum, R H; Pearson, J; Patel, C; Barnes, P M; Portch, J; Crawfurd, M D
Abstract:
We report three cases of ring chromosome 5 [r(5)], two familial (mother and daughter) and one sporadic. The phenotype resembled that of the "ring syndrome" with prenatal onset of short stature, growth retardation, mild facial dysmorphism and normal psychomotor development. Extended metaphase and prometaphase chromosome preparations using G-, R- and Q-banding and scanning electron microscopy (SEM) failed to demonstrate deletion in the ring 5. Flow karyotype using the FACS cell sorter and peak area analysis showed the r(5) to be in the same position as the normal chromosome 5. The deletion that is presumably associated with ring formation appears to involve less that one megabase of DNA. In the "complex" rings, high resolution SEM showed fragile sites at the 5q34 and 5q35 region with frequent deletions at that site. A literature survey suggests that when a parent carries a ring chromosome about 80% of recognised pregnancies result in live birth. Of these, about half have a normal phenotype and karyotype, and half inherit the parental ring; about half of those acquiring the ring (20%) show significant mental retardation.
Affiliation:
Kennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex, UK.
Citation:
Investigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks. 1990, 85 (5):516-20 Hum. Genet.
Journal:
Human Genetics
Issue Date:
Oct-1990
URI:
http://hdl.handle.net/10541/109832
DOI:
10.1007/BF00194228
PubMed ID:
2227937
Type:
Article
Language:
en
ISSN:
0340-6717
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorMacDermot, K Den
dc.contributor.authorJack, Een
dc.contributor.authorCooke, Aen
dc.contributor.authorTurleau, Cen
dc.contributor.authorLindenbaum, R Hen
dc.contributor.authorPearson, Jen
dc.contributor.authorPatel, Cen
dc.contributor.authorBarnes, P Men
dc.contributor.authorPortch, Jen
dc.contributor.authorCrawfurd, M Den
dc.date.accessioned2010-08-18T13:16:09Z-
dc.date.available2010-08-18T13:16:09Z-
dc.date.issued1990-10-
dc.identifier.citationInvestigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks. 1990, 85 (5):516-20 Hum. Genet.en
dc.identifier.issn0340-6717-
dc.identifier.pmid2227937-
dc.identifier.doi10.1007/BF00194228-
dc.identifier.urihttp://hdl.handle.net/10541/109832-
dc.description.abstractWe report three cases of ring chromosome 5 [r(5)], two familial (mother and daughter) and one sporadic. The phenotype resembled that of the "ring syndrome" with prenatal onset of short stature, growth retardation, mild facial dysmorphism and normal psychomotor development. Extended metaphase and prometaphase chromosome preparations using G-, R- and Q-banding and scanning electron microscopy (SEM) failed to demonstrate deletion in the ring 5. Flow karyotype using the FACS cell sorter and peak area analysis showed the r(5) to be in the same position as the normal chromosome 5. The deletion that is presumably associated with ring formation appears to involve less that one megabase of DNA. In the "complex" rings, high resolution SEM showed fragile sites at the 5q34 and 5q35 region with frequent deletions at that site. A literature survey suggests that when a parent carries a ring chromosome about 80% of recognised pregnancies result in live birth. Of these, about half have a normal phenotype and karyotype, and half inherit the parental ring; about half of those acquiring the ring (20%) show significant mental retardation.en
dc.language.isoenen
dc.subject.meshAdult-
dc.subject.meshChromosome Aberrations-
dc.subject.meshChromosome Banding-
dc.subject.meshChromosome Disorders-
dc.subject.meshChromosomes, Human, Pair 5-
dc.subject.meshFemale-
dc.subject.meshHumans-
dc.subject.meshInfant, Newborn-
dc.subject.meshKaryotyping-
dc.subject.meshPhenotype-
dc.subject.meshPregnancy-
dc.subject.meshPregnancy Outcome-
dc.subject.meshRing Chromosomes-
dc.subject.meshRisk Factors-
dc.subject.meshSyndrome-
dc.titleInvestigation of three patients with the "ring syndrome", including familial transmission of ring 5, and estimation of reproductive risks.en
dc.typeArticleen
dc.contributor.departmentKennedy Galton Centre, Northwick Park Hospital, Harrow, Middlesex, UK.en
dc.identifier.journalHuman Geneticsen

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