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A pericentric inversion, 5p–q+, and additional complex rearrangements in a case of cri-du-chat syndrome


Catti, A; Schmid, Werner (1971). A pericentric inversion, 5p–q+, and additional complex rearrangements in a case of cri-du-chat syndrome. Cytogenetic and Genome Research, 10(1):50-60.

Abstract

A malformed girl presenting the typical clinical features of the cri-du-chat syndrome is described. Her karyotype contains three grossly abnormal chromosomes, a 5p–q+, a ring C and a 15q+. Formally, a minimum of six breaks is involved in the origin of this complex anomaly. Based on autoradiographic evidence, it is concluded that the cri-du-chat phenotype in this patient is due to a submicroscopical lesion in the distal segment of the short arm of the abnormal No. 5 chromosome; without noticeable loss of chromatin, a break involved in a pericentric inversion, 5p–q+ seems to have altered a chromosome section of crucial importance. Such an interpretation is supported by the reports of cri-du-chat cases with morphologically normal No. 5 chromosomes. The additional structural rearrangements in the child’s karyotype apparently did not affect his phenotype. Blood cultures from the child’s mother showed acentric fragments and ring chromosomes in 5.3% of 225 analyzed cells. Possible causes for this high aberration rate are discussed.

Abstract

A malformed girl presenting the typical clinical features of the cri-du-chat syndrome is described. Her karyotype contains three grossly abnormal chromosomes, a 5p–q+, a ring C and a 15q+. Formally, a minimum of six breaks is involved in the origin of this complex anomaly. Based on autoradiographic evidence, it is concluded that the cri-du-chat phenotype in this patient is due to a submicroscopical lesion in the distal segment of the short arm of the abnormal No. 5 chromosome; without noticeable loss of chromatin, a break involved in a pericentric inversion, 5p–q+ seems to have altered a chromosome section of crucial importance. Such an interpretation is supported by the reports of cri-du-chat cases with morphologically normal No. 5 chromosomes. The additional structural rearrangements in the child’s karyotype apparently did not affect his phenotype. Blood cultures from the child’s mother showed acentric fragments and ring chromosomes in 5.3% of 225 analyzed cells. Possible causes for this high aberration rate are discussed.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
04 Faculty of Medicine > Institute of Medical Genetics
Dewey Decimal Classification:570 Life sciences; biology
610 Medicine & health
Scopus Subject Areas:Life Sciences > Molecular Biology
Life Sciences > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Molecular Biology, cri-du-chat syndrome, Autoradiography, Chromatin, Chromosome Aberrations, Human chromosomes 13-15, Human chromosomes 4-5, Human chromosomes 6-12 and X, Cri-du-Chat Syndrome, Dermatoglyphics, Female, Humans, Infant, Karyotyping Radiation Injuries
Language:English
Date:1 January 1971
Deposited On:27 Jan 2023 13:32
Last Modified:28 Apr 2024 01:47
Publisher:Karger
ISSN:1424-8581
OA Status:Closed
Publisher DOI:https://doi.org/10.1159/000130126
PubMed ID:5097502
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