Case Reports in Genetics

Case Report

A Case of 17q21.31 Microduplication and 7q31.33 Microdeletion, Associated with Developmental Delay, Microcephaly, and Mild Dysmorphic Features

Table 1

Comparison of main clinical indications reported on seven patients with 17q21.31 microduplications.
ReferencePresent caseKirchhoff et al. [15]Kitsiou-Tzeli et al. [16] Patient 4Grisart et al. [17] Patient 1Grisart et al. [17] Patient 2Grisart et al. [17] Patient 3Grisart et al. [17] Patient 4
hg19 coordinates43,645,879–44,292,74243,675,408–44,159,86243,933,055–44,628,15043,717,703–44,345,03843,778,601–44,364,056~43,744,217–~44,344,22343,932,635–44,172,437
Pregnancy38 weeks, suspected IUGRUneventful 42 weeks40 weeksPlacental detachment at termNormal at termNormal at termNormal at term
Birth (gms)2.4903.07025003.570 (P50)3.500 (P50)2.890 (22SD)5.100 (+3SD)
Walk (months)156013122414–1627
Tiptoe walking+NDND+−+−
Psychomotor Development       
 HypotoniaND+−−+−+
 HyperactivityND+ND+−ND+
 PassivityNDNDNDND+NDND
 Obsessive behaviourNDNDNDND+ND−
 Social interactionNDNDOutburst of temperPoorPoorPoor, anxiousPoor
Intelligence       
 Psychomotor retardationNDSevereNDMildMildMildMild
 Verbal skillsNormalVery poorNDLimitedNormalPoorNormal
 Motor skillsPoorNDNDPoorPoorNDNormal
Dysmorphism       
 Microcephaly++NDMild−−−
 SynophrysNDNDND+Bushy eyebrows−−
 Epicanthic foldsNDNDND−+−−
 Dysplastic earsND+ND++−+
 NoseNDShortShort nose, prominent nasal tip, and columellaUpturnedShort, upturned−−
 PhiltrumNDSmoothSmoothShortShort−−
 MidfaceNDNDSmall mouth−Flat−Flat
 PalateNDHigh archedND−High arched−−
 Prominent incisorND+ND++−−
 MicrognathiaND+MildND−ND−
 FingerNDBroadNDClinodactyly of 5thTaperingNDClinodactyly of 5th
 Palmar creaseNDNDNDSingle on right hand−NDND
 FeetNDBroadNDPartial syndactyly−ND2-3 Syndactyly
Others       
 Almond shaped eyes,
small hands		Hirsutism on backGlobal hirsutism, ataxic gait, VSDHirsuitism on backLow posthairline Hypogonadism
ND: not determined, +/−: trait present/not present in patient.