Case Reports in Genetics

Case Report

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

Table 1

Phenotypes of the patients described by array-CGH with a deletion overlapping with our case.
 Decipher 300694Decipher 273548Blyth et al. 2008 [4]Vergult et al. 2012 [5] Patient 1Vergult et al. 2012 [5] Patient 2Vergult et al. 2012 [5] Patient 3Vergult et al. 2012 [5] Patient 4Bartnik et al. 2014 [6]Stewart et al. 2014 [7]Küry et al. 2017 [8] Patient 5Küry et al. 2017 [8] Patient 6Küry et al. 2017 [8] Patient 9Küry et al. 2017 [8] Patient 10Present Case
17q deletion (cytoband)q24.2q24.2q24.2q24.3q23.3q24.2q24.1q24.2q24.2q24.2q24.3q24.2q24.2q24.3q23.3q24.2q24.2q24.2q24.2q24.1q24.2
Size (Mb)1,190,232,263,111,712,114,161,93,891,374,060,840,622,5
Age at phenotypic descriptionChildhoodPostnatal12 years28 years11 years28 years2.5 years1 year16 years1.5 years3.5 years4.5 years9 yearsPrenatal
Parental originDNMHDNDNDNDNDNDNDNDNDNDNDNDN
Craniofacial dysmorphism++++++++++++++
Triangular face−−−−+−+NR−−−−−−
Round face−−−−+++NR−−−−−−
Small/narrow palpebral fissures−−−−−++NR+−−−−−
Downlanting palpebral fissures+−−+−−−NR−−−−−−
Ptosis−−−−+++NR−−−−−NA
Hypertelorism+−+++++NR+++−−+
Bulbous/prominent nose−−+−+++NR+−−++−
Broad nasal bridge−−+−−++NR+−−−−−
Short philtrum−−−−−+−NR+−−+−−
Thin lips+−+++++NRNR−−−−−
Arched or cleft palate−−+−+−−NR−−−+−−
Abnormality of the teeth−−++−++NR+−−−−NA
Retrognathia/micrognathia−−+−+−+NR−+−+−+
Ears abnormality−−−++++NR+−++++
Dolichocephaly−−−NRNRNRNRNR−−−−−+
Microcephaly−++−−−+NR−+−−−−
Hearing impairment−−−−+++NR−−+−−NA
Visual impairment−−++−−−NR+−−−−NA
Malformation of the heart/great vessels−−NR+−NR+NR+++−−NA
Mental/psychomotor retardation+++++++++++++NA
Behavioural/psychiatric abnormality−−−+−+−NR+−NRNR+NA
Seizures−−−+−+−NR−−−−+NA
Polyhydramnios−−NR−NRNRNRNR−NRNRNR−+
Intrauterine growth retardation−−+−−++NR+NR+++−
Feeding difficulties−−+++++NR+−++−NA
Failure to thrive/short stature+−+−+++NR++++−NA
Obesity−−−+++++−−−−−NA
Skeletal features−−NR+++NRNR+−−+−−
Joint anomalies−−NR+−++NR−−−−−+
Abnormality of skin−−+−−++NR+−−−−−
Equinovarus feet−−NR−−−NRNR−−−−−+
Abnormality of the fingers/toes−−+++++NR+−++−+
Clinodactyly of fifth finger/toes−−+−++−NR−−−−−−
2-3 toes’ syndactyly−−+−−++NR+−++−+
+: clinical feature present; −: clinical feature absent; NA: not applicable; NR: not reported; DN: de novo; MH: mother inherited.