A case of multiple chromosomal rearrangements with persistence of foetal haemoglobin

Nuzzo, Fiorella; Marini, Alberto; Baglioni, Corrado; Ford, C. E.; Carli, L. De; Sereni, Lucia Piceni

doi:10.1159/000129981

Cited by 15 publications

(3 citation statements)

References 10 publications

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“…The first documented CCR case was a translocation affecting three chromosomes in a child with mental retardation and associated dysmorphic features (Nuzzo et al, 1968). In 1970, a team of Lund University researchers discovered another translocation involving three, or possibly, four chromosomes and characterised it as a “complex translocation” and “complex rearrangement” (Fredga and Hall, 1970).…”

Section: Introductionmentioning

confidence: 99%

On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update

et al. 2019

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In the present review, we focus on the phenomenon of chromothripsis, a new type of complex chromosomal rearrangements. We discuss the challenges of chromothripsis detection and its distinction from other chromoanagenesis events. Along with already known causes and mechanisms, we introduce aberrant epigenetic regulation as a possible pathway to chromothripsis. We address the issue of chromothripsis characteristics in cancers and benign tumours, as well as chromothripsis inheritance in cases of its occurrence in germ cells, zygotes and early embryos. Summarising the presented data on different phenotypic effect of chromothripsis, we assume that its consequences are most likely determined not by the chromosome shattering and reassembly themselves, but by the genome regions involved in the rearrangement.

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Section: Introductionmentioning

confidence: 99%

On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update

et al. 2019

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“…No further investigations were made, after finding out that this case had already been published by Nuzzo et al (1968). CASE 2: newborn male, second child of unrelated parents.…”

Section: (^Carrier ^Affectedmentioning

confidence: 99%

Chromosomal Survey in 298 Normal Subjects and 1,253 Cases of Congenital Disorders during 1966-1970

Battaglia¹,

Guanti²,

Barsanti³

et al. 1971

Acta genet. med. gemellol.

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SummaryA survey of chromosomal abnormalities has been carried out in Italy since 1966. Among the 1,551 subjects examined, the following abnormalities were found: 2 cases of C/C translocation, 1 of D/C, 5 of D/D, and 9 of D/G; 2 cases of Patau's syndrome with D trisomy; 4 cases of Edwards' syndrome; 176 cases of Down's syndrome, of which 163 with regular trisomy, 4 with mosaicism, 7 with D/G translocation, 1 with G/G translocation, and 1 with C/G translocation; 10 cases with 47,XXY complement; 1 case with 46,XY/47,XXY/48,XXXY mosaicism; 4 cases with 45,XO karyotype; 3 with 45,XO/46,XX, 1 with 45,XO/46,XY, 2 with 45,XO/46,XXr and 1 with 45,XO/46,XXi mosaicism; 2 cases with 47,XYY complement; 2 phenotypic females with 46, XY karyotype; and 5 leukaemic patients with Ph chromosome.Furthermore, several kinds of normal variants were observed, such as no. 9 prominent secondary constriction, chromosome-D or -G enlarged short arm, 16-pair heteromorphism, Y-chromosome polymorphism, and satellited E chromosome.

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“…Reciprocal interchanges between three chromosomes have been described in the literature five times in man (Nuzzo et al 1968, Fredga & Hall 1970, Allderdice et al 1971, Fujita et al 1974. Translocations involving homologous chromosomes are difficult to detect without banding or meiotic studies.…”

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confidence: 99%