Partial trisomy and partial monosomy of the distal long arm of chromosome 4: patient report and literature review

We report the first patient with a partial trisomy and a partial monosomy of the long arm of chromosome 4: 46,XY, inv dup(4)(pter-->q32::q32-->q26), del(4)(q32-->qter). The boy died from a complex cardiac defect (monoventricle, monoatrium and truncus arteriosus) in combination with a diaphr...

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Bibliographic Details
Published inGenetic counseling Vol. 7; no. 2; p. 135
Main Authors Frints, S G, Schrander-Stumpel, C T, Engelen, J J, Da Costa, A J, Fryns, J P
Format Journal Article
LanguageEnglish
Published Switzerland 1996
Subjects
Chromosomes, Human, Pair 4 - genetics
Fatal Outcome
Gene Deletion
Heart Defects, Congenital
Hernia, Diaphragmatic - diagnosis
Humans
Infant, Newborn
Male
Monosomy - genetics
Multigene Family
Trisomy - genetics
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Summary:We report the first patient with a partial trisomy and a partial monosomy of the long arm of chromosome 4: 46,XY, inv dup(4)(pter-->q32::q32-->q26), del(4)(q32-->qter). The boy died from a complex cardiac defect (monoventricle, monoatrium and truncus arteriosus) in combination with a diaphragmatic hernia. In addition he had preaxial polydactyly of the right hand. We compare the clinical features with data from the literature. The phenotype of the patient mainly resembles that in patients with a terminal deletion 4q32.
ISSN:1015-8146