8p23.1 duplication syndrome differentiated from copy number variation of the defensin cluster at prenatal diagnosis in four new families

Table 2 Features of the present and previous cases of the 8p23.1 duplication syndrome:

Physical findings at birth or diagnosis	Present Case 1	Present Case 2	Present Case 3 Proband	Present Case 3 Sister	Present Case 3 Father	Barber *et al*. (2008) Case 1	Barber *et al*. (2005) Case 1	Barber *et al*. (2008) Family 1 Proband	Barber *et al*. (2008) Family 1 Mother	Barber *et al*. (2008) Family 2 Proband	Barber *et al*. (2008) Family 2 Mother
Ascertainment of dup(8)	CHD	AMA	AMA	AMA	AMA	1:150 risk	DD;CHD	PNAI	Daughter	DYS	Son
Prenatal/ Postnatal	Pre	Pre	Pre	Pre	Pre	Pre	Post	Post	Post	Post	Post
Pregnancy continued	Y	Y	N	n/a	n/a	Y	n/a	n/a	n/a	n/a	n/a
Sex	F	M	M	F	M	F	F	F	F	M	F
Delivery gestation (wks)	41	41+1	22	< 40	n/a	40	n/k	42	n/a	40+5	n/a
Apgar scores	7;9	10;10;10	n/a	9	n/a	8;9	n/a	n/a	n/a	n/a	n/a
Birth weight (kg)	3.3	2.92	n/r	2.78	n/k	3.15	n/k	3.6	?	3.39	?
OFC (cm)	38	35	n/r	?	n/k	33.6	n/k	n/r	n/k	39.5	?
Age at examination	3/12	Neonate	22/52	15	45	15/12	8	4	n/r	22/12	n/r
Developmental delay	n/a	n/a	n/a	++	?	n	+	-	-	-	+
Learning difficulties	n/a	n/a	n/a	+	+	n/a	+	-	+	-	+
Facial dysmorphism	-	-	-	-	-	+	+	+/-	+	++	++
Congenital heart defects	++	++	+	++	-	n	+	+	-	-	-
Neurological defects	-	n	?+	+	-	n	-	+	-	-	-
Syndactyly	-	-	-	-	-	-	-	-	-	+	+
Adrenal anomalies	-	-	+	-	-	-	-	++	-	-	-
Hydronephrosis and hydroureter	-	-	+	-	-	-	-	-	-	-	-
Alveolar anomalies	-	-	+	-	-	-	-	-	-	-	-
Hearing loss	-	-	-	-	+	-	-	-	-	-	-
Exostoses	-	-	-	-	+	-	-	-	-	-	-

AMA: Advanced Maternal Age; CHD: Congenital heart defect; DD: Developmental delay;
DYS: Facial dysmorphism; n: no evidence; n/a: not applicable; n/k: not known; n/r: not recorded; PNAI: Primary Neonatal Adrenal Insufficiency; Y = Yes; + = present; - = absent.

ISSN: 1755-8166