TABLE I.

Indivuduals With Submicroscopic Isolated Terminal 20p Deletions

	1	2	3	4	5	6	7	8
Reference	1	1	1	1	1	2	3	4	This report
Orginally reported as	Case 133	Case 134	Case 135	Case 136	Case 137	Patient 11	Case 6	Case 5	Patient 1
Size of deletion									0.9 Mb del 20p 1.7 Mb dup 20q
Inheritance	var (pat)	de novo	de novo	de novo		de novo	mat	de novo	mat
Sex	M	M	F	M	M	M	M	M	M
Age at report (years)	2 4/12	1 11/12	3 9/12	1	1	3	10	10	7 5/12
Clinical Indication	Features of SMS	DD	DD, DF, growth delay	Growth delay, hypotonia, kidney hypoplasia	DD	DD, macrocrania	Moderate global intellectual disability (WISC-III)	Moderate MR	? Mild Cornelia de Lange syndrome Borderline development to mild MR
Height						10th	25th	short	5th
Weight						50–75th			5–10th
Head						>95th	2nd		50–75th
Craniofacial dysmorphism						Frontal bossing, high forehead	Microcephaly, long face, deep-set eyes, small mouth, up-slanting palpebral fissures	Trigonocephaly, high nasal bridge	Mild synophrys, long eyelashes, arached/thick eyebrows, thin upper lip
External ear anomalies						Large lobes			Thickened superior helicies, slight posterior rotation
Philtrum							Short		prominent
Hand anomaly						Left single palmar crease			BL mild persistence of fetal pads
Foot anomaly						Partial 2,3 syndactyly	Pes planus		Normal
Hypotonia				Y		Y			No
Hirsutism						Y			Mild
Unique features						Prone to diarrhea	Generalized epilepsy, delayed secondary dentition	PDA, dextrocardia, brachydactyly	Multiple sacral dimples

(1) Ravnan et al. [2006], (2) Roberts et al. [2004], (3) Baker et al. [2002], (4) Baroncini et al. [2005]

Var, variant; SMS, Smith-Magenis syndrome; DD, developmental delay; DF, dysmorphic features; MR, mental retardation; PDA, patent ductus arteriosus; Blank, not reported