Previously reported cases with “pure” monosomy for 15q24-15qter and the first two probands
Bettelheim7(case 1) | Bettelheim7 (case 2) | Schlembach8 | Biggio9 | Proband 1 | Proband 2 | |
---|---|---|---|---|---|---|
Deletion | 15q24-qter | 15q24-qter | 15q25-q26.2 | 15q26.1 | 15q26.1+ | 15q26.2 |
Weight | <10th centile | <10th centile | 10th centile | Normal | <10th centile | 90th 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 | + | + | ||||
Prognosis | Stillborn | Died at 10 months | Died on day 1 | Alive at 4 months | Died on day 1 | Died on day 1 |