Table 1

Clinical findings of the trisomic patient compared with published case reports

Clinical findings Chia et al13 Verschuuren-Bemelmans
et al14 		Verschuuren-Bemelmans
et al14 		Present case
SexMFMF
Age5 weeks22 years20 years5 years
1q partial duplication1q42–qter1q42–qter1q42–qter1q–44qter
Parental origint(1;22)(q42;p12)matt(1;15)(q42;p11)patt(1;15)(q42;p11)patt(1;15)(q44;p12)mat
Growth retardationPrenatal++−
Mental retardation/++−
Macrocephaly++++
Large fontanelle++−−
Widely spaced sutures++−−
Prominent forehead++++
Downward slanting palpebral fissures−++−
Hypertelorism///+
Flat nasal bridge+−−−
High arched palate/+−−
Micrognathia/retrognathia+++−
Abnormal ears+−−−
Cerebral anomaly/+−−
Cardiac defect+Systolic murmur−VSD spontaneously closed

  • + present, − absent, / not reported.

  • VSD: ventricular septal defect.