Table 3 Complete panel of clinical manifestations in ring 15 chromosome patients (N = 97)

 Weight (< 2100 g)

+

[4, 17, 22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39]

 Height (< 46 cm)

+

[4, 7, 8, 17, 22,23,24,25, 29, 30, 38, 40,41,42,43,44,45,46,47,48]

 Microcephaly

+

[4, 6, 8, 10, 15, 23,24,25, 29, 33,34,35, 37,38,39, 42, 44, 46, 47, 49,50,51,52,53,54,55,56,57,58]

 Brachycephaly

–

[4, 10, 45, 50]

 Hypertelorism

+

[6, 8, 16, 17, 24,25,26, 41, 42, 50, 51, 55, 59,60,61,62]

 Frontal bossing

–

[4, 6, 10, 25, 28, 42, 51, 63]

 Sparse temporal hair

+

[32, 35, 51, 52, 63, 64]

 Short palpebral fissure

–

[17, 23, 32, 53, 54, 65]

 Low and sharp tapering ears

+

[6, 7, 17, 23, 25, 29, 32, 33, 36, 42, 43, 53, 59, 61, 66, 67]

 Triangular face

–

[8, 15, 24, 25, 27,28,29,30, 32,33,34, 38, 40, 43, 44, 46, 48, 50, 51, 54, 55, 57, 58, 66,67,68]

 Broad nasal bridge

+

[8, 15, 18, 23, 24, 32,33,34, 36, 38, 44, 49, 63, 65, 67, 68]

 Small nose

–

[8, 28, 32, 33, 44, 63]

 Short philtrum

–

[6, 15, 25, 28, 35, 39, 48, 51, 56, 63]

 Mouth with down-turned corners

+

[25, 32, 33, 43, 48, 54, 55, 69]

 Hypoplasia of labia minora

–

[32, 34, 38, 44, 70]

 High-arched palate

–

[4, 6, 8, 13, 17, 24,25,26, 30,31,32, 38, 44, 52,53,54, 59, 65, 66]

 Epicanthal folds

–

[15, 34, 37, 39, 48, 52, 53, 63, 65]

 Micrognathia

–

[15, 24, 25, 48, 51,52,53,54,55, 57, 63, 67, 68, 71]

 Retrognathia

–

[4, 6, 8, 17, 34, 44, 45, 51, 70]

 Strabismus

–

[18, 26, 29, 32, 54, 56, 66]

 Delayed bone age

–

[6, 18, 22, 24, 30, 34, 37, 38, 43, 45,46,47, 53, 60, 62, 64, 72, 73]

 Short neck

–

[8, 24, 32, 44, 48, 52]

 Scoliosis

–

[4, 24, 38, 39, 41, 44]

 Abnormal simian crease

–

[32, 57, 59, 64, 65]

 Café au lait macules

+

[4, 6, 15, 22, 28,29,30, 32, 37,38,39, 41, 46, 50, 51, 53, 54, 56, 59, 64, 66, 69, 74]

 Patent ductus arteriosus

–

[32, 33, 42, 43, 71]

 Atrial septal defect

–

[6, 15, 18, 32, 33]

 Ventricular septal defect

–

[15, 22, 33, 42]

 Diaphragmatic hernia

–

[25, 33, 36, 47, 67]

 Shield chest

–

[25, 42, 52, 68]

 Hypoplasia of the mammary glands

–

[52]

 Clinodactyly

–

[4, 6, 8, 24, 26, 28, 32,33,34, 38, 43, 44, 50, 53, 54, 64, 68, 69, 71]

 Brachymesophalangy

–

[7, 8, 25, 32, 38, 42, 44, 46, 50, 52, 66, 70,71,72]

 Dysmorphic phalanx

–

[7, 38, 52]

 Abnormal palmar crease on fingers

–

[4, 25, 26, 43, 72]

 Arachnodactyly

–

[41,42,43, 62, 65, 66]

 Small hands

–

[7, 8, 17, 18, 24, 32, 36, 44, 54, 71]

 Single sandal gap

–

[30

 Disproportionate growth of limbs

–

[28, 42, 43, 55, 61, 65, 69]

 Uterine hypoplasia

n/a

[52]

 Ovarian hypoplasia

n/a

[52]

 Small genitalia

n/a

[25, 31, 47, 65, 66]

 Hypotonia

–

[17, 23, 24, 26, 31, 59, 69, 75]

 Growth retardation

+

[6,7,8,9,10, 15, 17, 18, 22,23,24,25,26,27,28,29,30,31,32,33,34,35, 37,38,39,40, 42,43,44,45,46,47,48,49, 51, 52, 54,55,56, 58,59,60, 64, 65, 67, 70,71,72,73,74, 76, 77]

 Overweight

–

[30,31,32, 39, 47, 52, 54, 76]

 Feeding problems

–

[31, 42, 54, 59, 69, 71]

 Retarded gross motor milestones

–

[7, 8, 18, 22, 29, 30, 32, 38, 40, 44, 47, 48, 55, 59, 60, 69, 73, 77]

 Developmental delay

–

[4, 6, 17, 18, 22, 24, 27, 28, 30, 32, 40, 47, 48, 54,55,56, 59, 60, 63, 72, 73, 77]

 Mental deficit

–

[4, 7,8,9,10, 15, 26,27,28,29, 31, 32, 35, 38, 39, 41, 44, 46, 47, 49, 54, 59, 64, 71, 72, 75, 77]

 Visual discrimination

–

[44]

 Language deficit

–

[4, 15, 18, 22, 23, 27, 31, 32, 35, 38, 44, 48, 51, 53,54,55, 59, 63, 65, 69, 73, 75, 76]

 Aggressive mood

–

[23, 35, 69, 70]