Supplemental File 8

Twelve cases of partial monosomy 21 from the DECIPHER database (accessed January 13, 2010). Array types included Agilent - Human 244 (cases 249224, 248325, 249135), Agilent - Human 4x44K (cases 4576, 230136; or a customized version for case 2126), Affymetrix 100K SNP arrays (case 2609), Affymetrix 500K SNP arrays (case 248616),1 megabase clone arrays (cases 105, 1584), other clone-based arrays (case 4131), or unspecified arrays (case 249393). The cases are listed in order of the first deletion breakpoint from most centromeric to closest to the 21q telomere. Abbreviations: Chr., chromosome; # Genes, HUGO Gene Nomenclature Committee genes; Mb, megabases; n/a, not available.

Patient / Karyotype / Chr. / Size, Mb / Start / Stop / # Genes
249224 / 46,XX, del(21)(q11.2;q21.1) / 21 / 6.37 / 14320039 / 20690911 / 12
Phenotype: speech delay
4131 / 46,XY,del(21)(q21.2q21.2) / 21 / 0.26 / 23830793 / 24095706 / 0
Phenotype: metopic ridge, epicanthic folds, speech delay, syndactyly 2-3 of toes, mental retardation/developmental delay, hypotonia (non-myopathic)
4576 / 46,XX, dup(17)(p11.2p11.2), del(21)(q22.11;q22.12) / 17 / 0.17 / 19624375 / 19791366 / 2
21 / 4.35 / 32296150 / 36643532 / 41
Phenotype: low birthweight (< 3rd centile), small teeth, dystrophic nails, mental retardation/developmental delay, bruxism, microcephaly, delayed bone age
2609 / [chromosomal sex unknown], del(21)(q22.11;q22.12) / 21 / 2.93 / 32352049 / 35284075 / 35
Phenotype: n/a
249393 / 46,XX, dup(4)(q31.1q31.1), del(21)(q22.11q22.11) / 4 / 0.53 / 139651195 / 140183969 / 1
21 / 0.30 / 33876113 / 34177712 / 3
Phenotype: Autism/autistic behaviour, macrocephaly
105 / 46,XX, del(21)(q22.13;q22.3) / 21 / 4.61 / 38078283 / 42689289 / 36
Phenotype: narrow forehead/temporal narrowing, large nose, macrostomia, short philtrum, large/prominent teeth, small hands, hallux valgus, mental retardation/developmental delay, stereotopy, microcephaly
248616 / [chromosomal sex unknown], dup(3)(p26.3p26.3), del(21)(q22.3q22.3) / 3 / 3.01 / 48602 / 3060004 / 3
21 / 5.00 / 41893289 / 46894358 / 88
Phenotype: prominent forehead/frontal bossing, narrow forehead/temporal narrowing, thin/long face, hoarse voice, joint laxity, mental retardation/developmental delay
248325 / 46,XY,dup(11)(p15.4;p15.5), del(21)(q22.3q22.3) / 11 / 3.02 / 186966 / 3210812 / 85
21 / 2.53 / 44378967 / 46905339 / 54
Phenotype: low birthweight (< 3rd centile), short stature (proportionate ), short stature (prenatal onset), prominent forehead/frontal bossing, large ears, triangular face, macrostomia, feeding problems in infants, clinodactyly, broad hallux, hypoglycaemia, recurrent infections, mental retardation/developmental delay
250136 / 46,XX, del(21)(q22.3q22.3) / 21 / 0.06 / 44762714 / 44826025 / 7
Phenotype: n/a
2126 / 46,XX, del(21)(q22.3q22.3), dup(X)(q28q28) / 21 / 1.54 / 45354820 / 46892352 / 22
X / 1.64 / 152850692 / 154494649 / 46
Phenotype: speech delay, stridor, constipation, multiple urinary infections, recurrent infections, mental retardation/developmental delay, microcephaly
1584 / 46,XY, del(21)(q22.3q22.3), dup(15)(q26.3q26.3) / 15 / 0.35 / 97226510 / 97577354 / 3
21 / 0.50 / 46424050 / 46925923 / 9
Phenotype: prominent forehead/frontal bossing, hypertelorism, strabismus, cleft upper lip (non-midline), cleft palate, mental retardation/developmental delay, nystagmus/oculomotor apraxia
249135 / 46,XY, del(1)(q21.1q21.1), del(21)(q22.3q22.3) / 1 / 1.68 / 144698513 / 146375718 / 11
21 / 0.16 / 46511707 / 46675829 / 4
Phenotype: speech delay, clinodactyly, mental retardation/developmental delay