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

J R Sawyer; J L Lukacs; S J Hassed; G L Arnold; H F Mitchell; M Muenke

doi:10.1002/(SICI)1096-8628(19961016)65:2<113::AID-AJMG6>3.0.CO;2-T

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

Am J Med Genet. 1996 Oct 16;65(2):113-6. doi: 10.1002/(SICI)1096-8628(19961016)65:2<113::AID-AJMG6>3.0.CO;2-T.

Authors

J R Sawyer¹, J L Lukacs, S J Hassed, G L Arnold, H F Mitchell, M Muenke

Affiliation

¹ Department of Pathology, University of Arkansas of Medical Sciences, Arkansas Children's Hospital, Little Rock, USA.

PMID: 8911601
DOI: 10.1002/(SICI)1096-8628(19961016)65:2<113::AID-AJMG6>3.0.CO;2-T

Abstract

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).

Publication types

Case Reports

MeSH terms

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*