Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: association with holoprosencephaly

We report on a patient with ring chromosome 7 analyzed by both high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly (HPE).

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 65; no. 2; p. 113
Main Authors Sawyer, J R, Lukacs, J L, Hassed, S J, Arnold, G L, Mitchell, H F, Muenke, M
Format Journal Article
LanguageEnglish
Published United States 16.10.1996
Subjects
Abnormalities, Multiple - genetics
Chromosome Banding
Chromosomes, Human, Pair 7
Cleft Lip - genetics
Female
Holoprosencephaly - genetics
Humans
Hypertelorism - genetics
In Situ Hybridization, Fluorescence
Infant
Infant, Newborn
Male
Pneumonia - complications
Pregnancy
Ring Chromosomes
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Summary:We report on a patient with ring chromosome 7 analyzed by both high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly (HPE).
ISSN:0148-7299
DOI:10.1002/(SICI)1096-8628(19961016)65:2<113::AID-AJMG6>3.0.CO;2-T