Table 1

Reports of proximal deletions of chromosome 2

Antich et al4 German et al1 1-150 Davis et al8 1-150 Present case Lucas et al5 1-150 Frydman et al6 1-150 Fryns et al2 McConnell et al3
Deletionq12-q14q13-q21q13-q21q14.1-q21q14-q21q14-q21q21-q24q22-q31
Parental origin of deletionUnknownUnknownPaternal karyotypePaternalUnknownUnknownUnknownUnknown
46,XY, inv (9), t(2,7)(q32.2;p11)
SexMMFMFFFF
Age8 mth1-151 30 mth29 mth1-151 17 y11 mth2 y2 mth1-151 Newborn1-151
Birth weight (g)240027904140 (97th centile)3060490025001500
GrowthFailure to thriveFailure to thrivePoor weight gain (5th centile)Weight 40th centile;Failure to thriveNot applicable
Linear growth normal (80th centile)Length 10th centile
Developmental delay/ learning difficulties+ (Severe)+ (Severe)Mod learning difficultiesSevere dev delay+ (Severe)Not applicable
Attention deficit disorder
OFCMicrocephalyMicrocephalyMacrocephalyMacrocephalyMicrocephalyMicrocephalyHydrocephalus
Head circumference at birth 32 cmHead circumference at birth: 36 cm (>95th centile)Head circumference 90–97th centileHead circumference at birth 32.5 cm (<3rd centile)
Callosal defect++Unknown++
Sutural irregularities+No+No+
Prominent forehead+++++
Ocular anomaliesNormal ophthalmic examinationCorneal opacityCataract
Peter's anomalyMicrophthalmia
Low set ears++++++
Malformed ears++++
MandibleMicrognathiaProminent, obtuse angulationMicrognathiaMicrognathiaMicrognathia
Cleft lip/palate+NoNo++
Cardiac malformationVentriculoseptal defectAtrial septal defectAortic root dilatationNoPatent ductusPatent ductusTruncus arteriosus
arteriosusarteriosus
Recurrent infections/ unusual immune responses++ (Recurrent unexplained febrile episodes)No+++
Leukaemoid reactions
Other anomaliesHydronephrosisAbnormal gaitLoose skinHypotonia in infancyHypotonia in infancyCortical blindnessPolycystic ovariesEncephalocele
Postaxial hexadactyly of toesHemizygosity at the MN locusGeneralised hyperextensibilityPectus carinatumSeizures
Dandy-Walker malformationKyphoscoliosisRenal malrotation and ectopia
Imperforate anusHydrocephalusProximal upper limb weaknessAnteriorly placed anus
Partial agenesis of the cerebellar vermisWinging of scapulae
Ovarian dysgenesis
Clinodactyly
  • 1-150 Cases with deleted regions which overlap that of the present case.

  • 1-151 Dead.