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Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long arm


Schinzel, Albert; Schmid, Werner; Mürset, Gertrud (1974). Different forms of incomplete trisomy 13. Mosaicism and partial trisomy for the proximal and distal long arm. Human Genetics, 22(4):287-298.

Abstract

Three cases with different forms of incomplete trisomy 13 are described; 1 was mosaic and 2 were partially trisomic for the distal and proximal long arm, respectively. The female patient who was mosaic for trisomy 13 exhibited microcephaly, minor dysmorphic features, a complex congenital heart defect, and malrotation of the intestine. The supernumerary No. 13 chromosome was present in only one fourth of blood lymphocyte and one third of skin fibroblast mitoses; her clinical picture has little in common with the usual trisomy 13 syndrome. Two sons of a mother with a balanced 13/17 translocation were found to be trisomic, one for the proximal third and the other for the distal two-thirds of the long arm of chromosome 13. The boy trisomic for the distal two-thirds showed some signs typical for the full trisomy 13 syndrome, such as stunted growth and severe mental retardation, long, incurved eyelashes, hemangiomata, and hexadactyly, whereas his brother, who is trisomic for the proximal third of the long arm of chromosome 13, presented rather unspecific clinical signs such as small chin, strabismus and nystagmus, cryptorchidism, and incurved little fingers. A review of other cases trisomic for these two segments shows that typical features of trisomy 13 are usually present in trisomy for the distal part of the long arm, and that duplication of, the proximal part leads to an unspecific clinical picture of mental retardation and minor dysmorphic traits.

Abstract

Three cases with different forms of incomplete trisomy 13 are described; 1 was mosaic and 2 were partially trisomic for the distal and proximal long arm, respectively. The female patient who was mosaic for trisomy 13 exhibited microcephaly, minor dysmorphic features, a complex congenital heart defect, and malrotation of the intestine. The supernumerary No. 13 chromosome was present in only one fourth of blood lymphocyte and one third of skin fibroblast mitoses; her clinical picture has little in common with the usual trisomy 13 syndrome. Two sons of a mother with a balanced 13/17 translocation were found to be trisomic, one for the proximal third and the other for the distal two-thirds of the long arm of chromosome 13. The boy trisomic for the distal two-thirds showed some signs typical for the full trisomy 13 syndrome, such as stunted growth and severe mental retardation, long, incurved eyelashes, hemangiomata, and hexadactyly, whereas his brother, who is trisomic for the proximal third of the long arm of chromosome 13, presented rather unspecific clinical signs such as small chin, strabismus and nystagmus, cryptorchidism, and incurved little fingers. A review of other cases trisomic for these two segments shows that typical features of trisomy 13 are usually present in trisomy for the distal part of the long arm, and that duplication of, the proximal part leads to an unspecific clinical picture of mental retardation and minor dysmorphic traits.

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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 > Genetics
Health Sciences > Genetics (clinical)
Uncontrolled Keywords:Genetics (clinical), Genetics, Trisomy 13, Mental Retardation, Skin Fibroblast, Strabismus, Congenital Heart Defect, Microcephaly
Language:English
Date:1 January 1974
Deposited On:27 Jan 2023 13:28
Last Modified:28 Apr 2024 01:47
Publisher:Springer
ISSN:0340-6717
Additional Information:Prof. Dr. med. Werner Schmid (Director of the institute till 1996)
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/bf00295488
Related URLs:https://api.semanticscholar.org/CorpusID:30792143 (Organisation)
PubMed ID:4139096
Other Identification Number:Corpus ID: 30792143