Case Reports in Genetics

Case Report

Pure Duplication of the Distal Long Arm of Chromosome 15 with Ebstein Anomaly and Clavicular Anomaly

Table 1

Summary of cases with duplications in the 15q24-qter region.
Present caseOkubo et al.Roggenbuck et al.Bonati et al.Kant et al.Tatton-Brown et al.Miller et al.
Twin1Twin2Family AFamily B
Case 1*Case 2Case 3Case ACase 1ACase 1-BCase 2-ACase 2-BCase 1Case 2
SexFMFFMMFMFFMFF
Trisomic segment15q24.2-q26.315q25-qter15q24-q26.315q24-26.315q24-q26.315q25.2-qter15q26.1-qter15q26.1-qter15q26.1-qter15q26-qter15q26-qter15q22-qter15q24-qter
Monosomic segment15p11.215p11.2nonenonenonenonenone15p12-pter15p12-pter14p11.2-pter14p11.2-pter7q36-qter21q22.2-qter
Dysmorphic features
Postnatal growth retardation−++−−−−−−−+
Tall stature+−−−++++++−−
Mental retardation/Developmental delay+++++++++++
Micrognathia++−−−
Long-tapered fingers++−−+−++
Clinodactyly+++−−+
Incurving and overlapping toes++−+++
Unusual palpebral fissuresSmallUpslantingDown-slanting−Down-slantingDown-slanting
Hypoplastic genitalia++−−−
Cardiac anomalyEbstein anomalyVentricular septationVSD+ASDEbstein anomalyEbstein anomaly
OtherRadiologic appearance of the claviclesAnencephalyMicrocephalyBrachycephalySeizureWide nasal bridgeFrontal bossingHorseshoe kidneyStrabismus Long prominent noseDolichocephalicMicrocephalyProminent nose
*Died soon after birthHigh arched palatePtosisStrabismusLong faceProminent chinBroad nasal bridgeLong chinProminent nose and chinProminent noseBroad nasal bridge
PtosisBlepharoptosisHypotoniaLarge chinBroad nasal bridge
SeizuresProminent nasal bridgeMultiple joint contractures
M: male; F: female; +: feature present; −: feature absent; blank: not known; VSD: ventral septal defect; ASD: atrial septal defect.