Table 1

 Previously reported cases with “pure” monosomy for 15q24-15qter and the first two probands

Bettelheim7(case 1)Bettelheim7 (case 2)Schlembach8Biggio9Proband 1Proband 2
Deletion15q24-qter15q24-qter15q25-q26.215q26.115q26.1+15q26.2
Weight<10th centile<10th centile10th centileNormal<10th centile90th centile
CDH++++++
Pulmonary hypoplasia++++
Cardiovascular
    Transposition of arteries+
    Bicuspid aortic valve+
    Preductal coarctation+
    Aortic stenosis+
    Dextrocardia+
    Hypoplastic left heart++
    Atrial septal defect+
    Ventricular septal defect+
Musculoskeletal
    Short hands and feet+
    Tapered fingers+
    5th finger clinodactyly++
    5th brachydactyly+
    Contracture right hand+
    Rockerbottom feet+
Other
    Aplasia cutis congenita+
    Facial dysmorphism+++
    Cleft palate++
    Nuchal webbing+
    Renal hypoplasia++
    Ureteral atresia+
    Double uterus/vagina+
    Single umbilical artery+++
    Talipes++
    PrognosisStillbornDied at 10 monthsDied on day 1Alive at 4 monthsDied on day 1Died on day 1