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Fluorescent in situ hybridisation detection of a balanced t(9;17) translocation in the father of a child with lissencephaly and additional abnormalities


Brecevic, Lukrecija; Binkert, Franz; Boltshauser, Eugen; Schinzel, Albert (1994). Fluorescent in situ hybridisation detection of a balanced t(9;17) translocation in the father of a child with lissencephaly and additional abnormalities. Developmental brain dysfunction, 7(2-3):147-154.

Abstract

Complete agyria was found at neuroradiologic examination in a newborn with severe neurologic deficit, spasticity, and seizures. He also revealed multiple minor anomalies, inguinal hernias, cryptorchidism, and clubfeet, and was tentatively diagnosed with Miller-Dieker syndrome. Cytogenetic examination disclosed asymmetry of the terminal short arm of chromosome 17 between the 2 homologs. Fluorescent in situ hybridization (FISH) examination revealed a microdeletion of this segment. FISH examination in the parents showed a balanced rcp(9;17) translocation in the father that resulted in duplication-deletion with partial trisomy of a tiny distal segment of 9p in addition to the 17p terminal deletion in the proband.

Abstract

Complete agyria was found at neuroradiologic examination in a newborn with severe neurologic deficit, spasticity, and seizures. He also revealed multiple minor anomalies, inguinal hernias, cryptorchidism, and clubfeet, and was tentatively diagnosed with Miller-Dieker syndrome. Cytogenetic examination disclosed asymmetry of the terminal short arm of chromosome 17 between the 2 homologs. Fluorescent in situ hybridization (FISH) examination revealed a microdeletion of this segment. FISH examination in the parents showed a balanced rcp(9;17) translocation in the father that resulted in duplication-deletion with partial trisomy of a tiny distal segment of 9p in addition to the 17p terminal deletion in the 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:610 Medicine & health
570 Life sciences; biology
Scopus Subject Areas:Life Sciences > General Neuroscience
Health Sciences > Neurology (clinical)
Uncontrolled Keywords:Genetics, Genetics (clinical)
Language:English
Date:1994
Deposited On:11 Jun 2024 07:15
Last Modified:12 Jun 2024 20:00
Publisher:Karger
ISSN:1019-5815
OA Status:Closed
Official URL:https://psycnet.apa.org/record/1995-22026-001
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