Ring 1 chromosome and dwarfism—a possible syndrome

Wolf, Charles; Peterson, James A.; LoGrippo, Gerald A.; Weiss, Lester

doi:10.1016/s0022-3476(67)80211-7

Cited by 23 publications

(13 citation statements)

References 4 publications

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“…However, with the exception of the patient reported by Wolf et al (1967) who displayed a remarkable stability of the ring structure in all cells analysed, superimposed genetic changes have been found to occur in the three other patients. These changes were due to subsequent formation of large, dicentric rings, smaller monocentric ring chromosomes, and other derivative ring types.…”

Section: Discussionmentioning

confidence: 82%

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Apparently non‐deleted ring‐1 chromosome and extreme growth failure in a mentally retarded girl

1978

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A girl, who was the product of the first recognized conception by healthy and chromosomally normal parents, and who was born 5 weeks before term with a birth weight of only 1,690 g, was found to have a ring‐1 chromosome, r(1), in almost all cells analysed. A minor proportion of cells had a normal diploid chromosome complement including two regular No. 1 homologues. A few cells contained a large dicentric ring, and two monocentric ring‐1 chromosomes were simultaneously observed in a few other cells. Q‐ and G‐banding revealed the r(1) chromosome to be apparently non‐deleted. The patient phenotypically resembled the three previously described human subjects with r(1) chromosomes, especially with respect to her remarkable growth failure and mental retardation. From consideration of data available on general development in subjects with an autosomal ring chromosome, it appears likely that the presence of such a ring chromosome per se in an early foetal chromosome complement may predispose to significantly retarded intrauterine and postnatal growth. Various genetical implications, including mitotic irregularities with subsequent loss of cells at division, are thought to account for the significant reduction of body mass in these patients.

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Section: Discussionmentioning

confidence: 82%

“…1, r(1). So far only three patients have been reported t o have a ring-1 chromosome in their complements (Gordon & Cooke 1964, Wolf et al 1967and Bobrow et al 1973). These three patients had some marked phenotypic features in common, e.g.…”

mentioning

confidence: 99%

Apparently non‐deleted ring‐1 chromosome and extreme growth failure in a mentally retarded girl

1978

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“…Unfortunately, the likely loss of chromosomal material from 15q in each of these cases precludes definitive analysis of the phenotypic effects of the l p deletion. Similar confounding factors complicate case reports of several ring 1 chromosomes (which necessarily involved terminal deletions of lq as well as lp) which displayed growth failure with mental retardation (Kjessler et al 1978, Bobrow et al 1973, Wolf et al 1967, Gordon & Cooke 1964. Yunis et al (1981) reported on a 4-yearold patient with severe growth and mental retardation and multiple anomalies including enophthalmos and abnormal EEG.…”

Section: Discusstonmentioning

confidence: 97%

The level of 6‐phosphogluconate dehydrogenase (6‐PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub‐band p36.3 on chromosome 1

et al. 1984

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A rare case of chromosome 1p deletion is reported in a mentally retarded male infant with a derived chromosome: 45, XY, ‐1, ‐13, tdic(1;13) (1qter → 1p36.2:13p11.2 → 13qter). Parental chromosomes were normal. Since the patient's 6‐PGD specific activity was in the normal range, it is probable that he retained both 6‐PGD alleles. Consequently, if a dosage affect exists, then the locus for 6‐PGD must be proximal to 1p36.3.

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“…To our knowledge, four families have been described with l;G translocation and have recently been reviewed (Ebbin et al 1971), and one individual has been reported with a t ( l p --; 4 q f ) chromosome (Gray et al 1072). Two cases of 46,XX, l r individuals with microcephalic dwarfism, large low set ears, "elfin" like facies, and mental and developmental retardation have appeared in the literature (Gordon & Cooke 1964, Cooke & Gordon 1965, Wolf et al 1967. The ring was assumed to be the result of terminal deletions followed by fusion of the ends, and i t appears as though this may result in a distinct clinical syndrome.…”

mentioning

confidence: 99%

A partial trisomy of chromosome 1 in a family with a t(1q−;4q+) translocation

Neu

Gardner

1973

Clinical Genetics

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A female infant with approximately one‐third of the terminal portion of the 1q chromosome arm attached to the end of a 4q arm (46,XX,4q+) is described. The proposita's mother, maternal grandfather and uncle are balanced translocation carriers 46,XX or XY,t(1q‐;4qf). The clinical findings were: elfin‐like facies, low set ears with large pinnae, and numerous cardiac anomalies. The proposita expired at eleven weeks of age.

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Ring 1 chromosome and dwarfism—a possible syndrome

Cited by 23 publications

References 4 publications

Apparently non‐deleted ring‐1 chromosome and extreme growth failure in a mentally retarded girl

Apparently non‐deleted ring‐1 chromosome and extreme growth failure in a mentally retarded girl

The level of 6‐phosphogluconate dehydrogenase (6‐PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub‐band p36.3 on chromosome 1

A partial trisomy of chromosome 1 in a family with a t(1q−;4q+) translocation

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