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Table 1 Previously reported and present patients with thrombocytopenia–absent radius syndrome ascertained by prenatal diagnosis

From: Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

Characteristic Patients Total
Reference [9] [10] [11] [12] [13] [14] [15] [16] [17] [18] [19] [20] [21] [22] Present
Patient identification by ref.     A B    1 2    2 3     4 12   
Previously affected child + + + + +        + +        6/11
Maternal age (years) 28 29 25 35 35 18   30 30 33 22    21 33 36    31  
Gestational age (weeks) 20 19 17 19 19 32 23 25 32 18 38 18 13 MP 16 13 13 13 21  
Sex    F M F M M F F M F F F M    F F M 9F, 5M
IUGR +      +    +            3/12
Thrombocytopenia       + - +1 + +2   +   - +      6/8
Upper limbs anomalies + + + + + + + + + + + + + + + + + + + 19/19
Humeral hypo/aplasia       + +             + 3/3
Short forearms    +      +1            + 3/3
Radial hypo/aplasia + +    + + + + + +   + + + + + + + + 16/16
Ulnar hypo/aplasia + +     + +      +     +    + 7/7
Club hands   +   + +    +   +   + +   + +    + 10/10
Lower limbs anomalies       + +    -         +   4/5
Other features    CH OH      AH, R, VM       PH   CH   Py, VM  
  1. 1: observed at 32 weeks. 2: obsterved at 37 weeks.
  2. IUGR intrauterine growth restriction, bil bilateral, A aplasia, Ab spontaneous abortion, AH aortic hypoplasia, CH cystic hygroma, H hypoplasia, OH oligohydramnios, MP mid-pregnancy, PH polyhydramnios, Py pyelectasis, RD renal dysplasia, ToP termination of pregnancy, VM ventriculomegaly.