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Partial Trisomy of Chromosome 18 (pter→q12) following a Familial 18;21 Translocation rcp(18;21)(q12;q11)


Binkert, Franz; Stranzinger, J; Schinzel, Albert (1990). Partial Trisomy of Chromosome 18 (pter→q12) following a Familial 18;21 Translocation rcp(18;21)(q12;q11). Human Heredity, 40(2):81-84.

Abstract

A 1-year-old boy with trisomy 18 (pter→q12) following a paternal balanced translocation revealed microcephaly, a pattern of minor dysmorphic features including upslanting narrow palpebral fissures, receding forehead, large nose and receding mandible, cryptorchidism, flexion contractures of fingers, a cardiac malformation and moderate mental retardation. While pure trisomy 18p generally goes along with a near-normal phenotype, additional trisomy of only a short segment of the proximal long arm 18 has a distinct negative influence on the phenotype, as seen in our proband.

Abstract

A 1-year-old boy with trisomy 18 (pter→q12) following a paternal balanced translocation revealed microcephaly, a pattern of minor dysmorphic features including upslanting narrow palpebral fissures, receding forehead, large nose and receding mandible, cryptorchidism, flexion contractures of fingers, a cardiac malformation and moderate mental retardation. While pure trisomy 18p generally goes along with a near-normal phenotype, additional trisomy of only a short segment of the proximal long arm 18 has a distinct negative influence on the phenotype, as seen in our proband.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections: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:Chromosome aberration, Trisomy 18p, Malformations
Language:English
Date:1990
Deposited On:17 Jan 2023 15:53
Last Modified:28 Apr 2024 01:44
Publisher:Karger
ISSN:0001-5652
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1159/000153910
PubMed ID:2335369
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