BioMed Research International

Research Article

Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome

Table 1

Summary of cytogenomic and clinical findings of eight samples investigated using array-comparative genome hybridization (CGH).
 Case 1Case 2Case 3Case 4Case 5Case 6Case 7Case 8Total
Karyotype46, XY, t(4:8)46, XX46, XX, 4p-46, XX, r(4)46, XX, 4p-46, XY, 4p-46, XY, 4p-46, XY, 4p- 
Molecular cytogenetic findings         
FISHdel4p16.3del4p16.3del4p16.3del4p16.3 del4p16.3del4p16.3del4p16.3del4p16.3 
Deletion size (pb)3,773,5463,773,5467,175,6288,102,374 8,829,01311,073,24824,404,74025,696,727 
Genomic position on chr:4
(GRCh38/hg38)		71552–384509771552–384509771552–724717971552–817392571552–89005641729442–1280268968,345–24,473,08468345–25765071 
Clinical findings         
Seizures++++++++8/8
Microcephaly++++++++8/8
Growth retardation+NANA+NA+++5/8
Intellectual disability+NA+++++NA6/8
Reserved prognosis−NA−++−+−3/8
Short upper lip+NA++++++7/8
Small mental region+NA++++++7/8
Labial deviations downward+NA++++++7/8
Hypoplastic columella+NA++++++7/8
Hypertelorism+NA+−++++6/8
Ptosis of the eyelids+NA+−++−NA5/8
Deployment of hair on forehead is high+NA+−++++6/8
Fine nose+NA++−−++5/8
Cardiovascular malformationsNANA+−−−+−2/8
Brain malformationsNANA+NA−−+−2/8
Cleft palateNANA−−NANA+−1/8
Renal malformationsNANA−−−NA−+1/8
HypospadiasNANA−NANANA−+1/8
Feet and small hands+NA+++++−6/8
Narrow fingers+NA++++++7/8
Hypotrophy of the thenar+NA+−−−+−3/8
Hammer toeNANA+−−−−−1/8
Abnormal dermatoglyphs−NA+NANANANANA1/8
(+) feature present; (−) feature absent; (NA) not available; FISH, fluorescence in situ hybridization.