Table 1

Karyotypes and clinical findings of the patients and family members with dup 8p23.1

Family	Case	Karyotype	Dev delay	Cardiac	Short stature	Hypotonia	Other
I	1 proband	46,XY,dup(8)(p23p23)pat	+	−	−	+	Ulnar synostosis, craniostenosis
	2 father of proband	46,XY,dup(8)(p23p23)	−	−	−	−	Phenotypically normal

II	1	46,XY,dup(8)(p23p23)	?	+ Aortic atresia, endocardial fibroelastosis, congestive heart failure	−	?	Mild organomegaly
							Death in neonatal period
							Parental chromosomes not analysed

III	1 sib of 2, 3	46,XY	+	−	+	−	Pervasive developmental disorder, unusual facies
	2 sib of 1, twin of 3	46,XX,dup(8)(p23.1p23.1)mat	+	+ Systolic murmur	+	−	Unusual facies; murmur resolved at age 10
	3 sib of 1, twin of 2	46,XY,dup(8)(p23.1p23.1)mat	+	−	+	?	Autistic-like features, aggressive behaviour, unusual facies
	4 mother of 1, 2, 3	46,XX,dup(8)(p23.1.p23.1)	?	?	+	?	Multiple miscarriages, graduated high school

IV	1 proband	46,XY,dup(8)(p23.1p23.1)pat, del(15)(q11q13)	+	?	?	+	Features consistent with Prader-Willi syndrome
	2 father of proband	46,XY,dup(8)(p23.1p23.1)	−	+ Atrial fibrillation	?	−

V	1	46,XY,dup(8)(p23.1p23.1)	?	+ Hypoplastic left heart syndrome	?	?	Death in neonatal period
							Parental chromosomes normal

VI	1	46,XY,dup(8)(p23.1p23.1)	+	−	?	+	Gastro-oesophageal reflux, unusual facies
							Parental chromosomes normal

VII	1 proband	46,XY,invdup(8)(p23.1p23.1)  mat	+	?	?	?	Seizure disorder, scoliosis, facial dysmorphism
	2 mother of proband	46,XX,invdup(8)(p23.1p23.1)	?	?	?	?	No information available

VIII	1 proband	46,XY,dup(8)(p23.1p23.1)mat	+	−	−	−	Autistic-like features, developmental delay
	2 mother of proband	46,XX,dup(8)(p23.1p23.1)	−	−	−	−	Phenotypically normal