Table 1

Clinical comparison of phenotypically abnormal patients with r(1) accessory chromosome

Patient		A		B		C		D	Case 1
Patient		This report		This report		This report		This report	Ref 11
Sex	M		M	M	F		M
Gestation	36		37	42	95		36
Growth
Height (centile)	50–75		75–90	75			10–25
Lean build			+	+
Long limbs			+
BW (g)	2955		2450	3717	3150		2600
(Centile)	50–90		10	10–50	10–50		10–50
FTT			+				+
CNS/development
Developmental delay/IQ	+/46–50		+/67–77	Language/ND			+/ND
Hypotonia							+
Craniofacial
HC (centile)	2–50		25	2–50	50–98		<2
Plagiocephaly					+		+
Double scalp whorl					+		+
Protruding ears				+	+		+
Ear creases				+
Long face				+
Long nose				+
Palpebral fissures
Long			+	+
Upward slanting			+	+
Hypocanthus				+
Telecanthus					+
Epicanthus							+
Hypertelorism							+
Synophrys			+
Strabismus	+
High palate			+	+	+
Trismus				+
Smooth philtrum				+
Protruding tongue					+ (infancy only)
Thorax/abdomen
Pectus excavatum	+		+
Nipples
Widely spaced	+
Hypoplastic	+
Low set	+
Hepatomegaly	+
Chronic diarrhoea/steatorrhoea			+
Congenital heart disease					+ small VSD
Musculoskeletal
Kyphoscoliosis			+	+ kyphosis
Clinodactyly V			+®	+
Camptodactyly V			+®
Skin
Elbow dimples				+
Haemangioma					+ neck, back
Other
Chronic serous otitis media				+