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Table 1 18p deletion: familial transmission cases.

From: Familial deletion 18p syndrome: case report

Author Family member Chromosomal anomaly Mental retardation Short Stature Dysmorphic features Notes
Uchida[9] Mother del(18p) +/- + + 88% mosaicism
  Son del(18p) + + + DQ = 65–70
  Daughter del(18p) ? ? ? Stillborn, cebocephalia
Velagaleti[10] Mother del(18p11.2) + + -  
  Daughter del(18p11.2) + + + IQ = 69
Tonk[20] Mother del(18p11.2) + - + Mild MR
  Fetus del(18p11.2) ? ? ? Cyclopia, holoprosencephaly
Tsukahara[11] Mother del(18p11.2) +/- - +  
  Daughter del(18p11.23) +/- - + DQ = 74
  Son del(18p11.2) +/- - + 11 months
Rigola[18] Mother del(18p11.3) + - +  
  Fetus del(18p), t(X, Y) ? ? ? No anomalies at autopsy
This report Mother del(18p11.2) + - + IQ = 43
  Proband del(18p11.2) + + + Moderate MR
  Daughter del(18p11.2) +/- - + Borderline to mild MR
  1. DQ, developmental quotient; IQ, intelligence quotient; MR, mental retardation.