Table 1

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