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Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings


Schinzel, Albert; Auf der Maur, P; Moser, H (1977). Partial deletion of long arm of chromosome 11[del(11)(q23)]: Jacobsen syndrome. Two new cases and review of the clinical findings. Journal of Medical Genetics, 14(6):438-444.

Abstract

Two cases, a boy and a girl, with the 11q-(Jacobsen) syndrome are reported. Findings common to both and typical for this chromosome aberration include a narrow protruding forehead, hypertelorism, non-horizontal position of the eyes, ptosis, strabismus, broad root, and short upturned tip of thenose, carp mouth, receding chin, misshapen ears, simian creases, and severe mental retardation. In addition, one patient had pyloric stenosis and an inguinal hernia. Growth retardation and microcephaly were not found in either of them. The karyotypes revealed de novo-deletions of the long arm of one chromosome 11,del(11)(q23).

Abstract

Two cases, a boy and a girl, with the 11q-(Jacobsen) syndrome are reported. Findings common to both and typical for this chromosome aberration include a narrow protruding forehead, hypertelorism, non-horizontal position of the eyes, ptosis, strabismus, broad root, and short upturned tip of thenose, carp mouth, receding chin, misshapen ears, simian creases, and severe mental retardation. In addition, one patient had pyloric stenosis and an inguinal hernia. Growth retardation and microcephaly were not found in either of them. The karyotypes revealed de novo-deletions of the long arm of one chromosome 11,del(11)(q23).

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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:Genetics (clinical), Genetics, Jacobsen Syndrome
Language:English
Date:1 December 1977
Deposited On:25 Oct 2023 06:58
Last Modified:29 Apr 2024 01:40
Publisher:BMJ Publishing Group
ISSN:0022-2593
OA Status:Closed
Free access at:Publisher DOI. An embargo period may apply.
Publisher DOI:https://doi.org/10.1136/jmg.14.6.438
Related URLs:http://www.ncbi.nlm.nih.gov/pmc/articles/pmc1013641/ (Library Catalogue)
PubMed ID:604495
Other Identification Number:Corpus ID: 10300283 / PMCID: PMC1013641