A child with a 21-ring chromosome, 45,XX,21-/46,XX,21r investigated with the banding technique

Shibata, K; Waldenmaier, C.; Hirsch, Walter

doi:10.1007/bf00291128

Cited by 17 publications

(8 citation statements)

References 14 publications

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“…Though the presence of multiple X chromosomes does not ordinarily result in congenital malformations (Hamerton, 1971), it is possible that the presence of the two chromosomal abnormalities in this patient resulted in some modifications of the clinical picture. Turc et al (1975) al, 1971;Crandall et al, 1972;Kucerova and Polivkova, 1974;Magenis et al, 1972;Palmer et al, this paper;Shibata et al, 1973;Warren et al, 1973. whereas Turc's table lists only patients with hypertrophy of the nasal bone.…”

Section: Dermatoglyphic Findingsmentioning

confidence: 84%

Four new cases of ring 21 and 22 including familial transmission of ring 21.

Palmer¹,

Hodes²,

Reed³

et al. 1977

Journal of Medical Genetics

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SUMMARY Four new cases of ring G chromosomes are presented including one family in which the ring 21 is present in a mother and in her daughter, who has 47,XXX,r(21) chromosomes. The clinical and dermatoglyphic findings in r21 and r22 syndromes are reviewed.G-deletion syndromes are associated with various cytogenetic findings. These include complete monosomy, monosomy-mosaicism, partial deletion of the long arm of a G group chromosome or mosaicism for such a deletion, translocation, or ring G chromosomes.While some of the translocations resulting in unbalanced segments with G-deletion syndrome have been familial the only evidence suggesting transmission of a ring G from parent to child occurred in a family with chromosome instability and mosaicism (Zdansky et al, 1969). In this paper we present the unusual finding of familial r21 in a mother and child. The daughter also carries an extra X. Two other cases of ring G are presented, one r21 and the other r22. These 4 individuals with ring G identified in banded chromosomes have given us the opportunity to review the literature of G deletion syndromes in which the chromosomes have been clearly identified by one of the several banding procedures. We have not included those cases resulting from translocations since such individuals may also carry an excess of genetic material derived from the translocation partner.Since there are diverse cytogenetic findings in the G-deletion syndromes it is not unexpected that the clinical picture also varies. Warren and Rimoin (1970) described two separate clinical entities, the Gl and G2 deletion syndromes and related them to deletion of chromosomes 21 and 22, respectively . Our work confirms the existence of two syndromes while pointing out the hazards of making the diagnosis on phenotype alone or even when nonbanded chromosomes indicate a G-deletion. Case reports Case 1 Family 21209This proband was a 6-day-old white girl, born to 27-year-old parents. The birthweight was 3090 g, occipital-frontal circumference (OFC) 38 cm (>97th centile), length 51 cm (75th centile). Clinical findings included: preauricular pits, hypoplastic mandible, simple vermillion border with long, flat philtrum, wide open metopic suture, high scalp hair, intact but high, narrow palate, grade 1-2/6 systolic ejection murmur along the left stemal border, palpable pole of the left kidney, thumbs heldunderthe fingers and upperextremities flexed, hyperextensible joints, stiff legs, bilaterally dislocated hips, hypolastic toenails, marked hypotonia, and wide spaced nipples. There was microphthalmus of the right eye and smooth cysts on the lower lids. The murmur was thought to be consistent with persistent ductus arteriosus. X-ray examination showed a small mandible, the superior mediastinum widened secondary to an enlarged thymus gland, ribs and bones of the hands and feet thin and fragile, and lateral malpositioning of both femoral heads in relation to the acetabulum with normal acetabular angles bilaterally. The

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Section: Dermatoglyphic Findingsmentioning

confidence: 84%

Four new cases of ring 21 and 22 including familial transmission of ring 21.

Palmer¹,

Hodes²,

Reed³

et al. 1977

Journal of Medical Genetics

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“…These changes develop unforseeably in the gonad and during embryonic development. The pathology induced by r21 illustrates the above theory: the r21 carriers have a phenotype either l ) of a trisomy 21 when the karyotype shows the existence of doublesized ring chromosomes in most of the cells (for review, see Ieshima et al 1980); 2) more often of a monosomy 21, when the ring is only a part of the chromosome 21; moreover, in most of these cases a number of the cells had lost the ring (Armandares et al 1971, Magenis et al 1972, Crandall et al 1972, Richmond et al 1973, Shibata et al 1973, Warren et al 1973, Kucerova & Polivkova 1974, Kunze et al 1975, Larget-Piet et al 1976, Maeda et al 1977, Palmer et al (case number 2) 1977, Choh et al 1979, Stern et al 1979, Fioretti et al 1980, Richer et al 1981, Fryns et al 1981, Ferrante et al 1983, Philip et al 1984, Carlo Stella et al 1984; 3) or have a normal phenotype; possible with r21 as well as with r15 (Moreau & Teyssier 1982).…”

Section: Discussionmentioning

confidence: 99%

Ring chromosome 21 in a phenotypically normal but infertile man

1985

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“…De summarized 5 cases, we add 11 more cases with ring-21 chromosomes (Picciano et al 1972, Shibata et al 1973b, Kucerova and Polivkova 1974b, Kunze et al 1975b, Serra and Singh-Kahlon 1976). These patients demonstrate delayed psychomotor milestones, often occurs microcephaly, in 10 cases different forms of seizures exist or myoclonic jerks.…”

Section: Ring-21 Chromosomementioning

confidence: 97%

Neurological Disorders in Patients With Chromosomal Anomalies

Kunze¹

1980

Neuropediatrics

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A child with a 21-ring chromosome, 45,XX,21-/46,XX,21r investigated with the banding technique

Cited by 17 publications

References 14 publications

Four new cases of ring 21 and 22 including familial transmission of ring 21.

Four new cases of ring 21 and 22 including familial transmission of ring 21.

Ring chromosome 21 in a phenotypically normal but infertile man

Neurological Disorders in Patients With Chromosomal Anomalies

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