Table 2 Laboratory findings and clinical features of 7 patients with 12q13.13 deletion

Age/Gender

14/M

6/F

5/M

Unknown

Unknown

Unknown

Unknown

Size

1.7 Mb

1.13 Mb

0.9 Mb

1.93 Mb

1.13 Mb

624.86 Kb

988.42Kb

Chr. location

12q13.13q13.2

12q13.13

12q13.13

12q13.13

12q13.13

12q13.13

12q13.13

 (hg18)^a

51,965,307–53,642,659

51,834,791–52,971,391

51,801,299–52,737,892

 (hg19)

53,679,040–55,356,392

53,548,524–54,685,124

53,515,032–54,451,625

52,810,526–54,739,060

53,548,524–54,685,124

53,493,442–54,118,309

53,617,808–54,616,234

# of genes

61

33

21

81

42

34

44

HOXC cluster

9 of 9

9 of 9

9 of 9

9 of 9

9 of 9

0 of 9

9 of 9

SP1, SP7, NPFF, MAP3K12 , PCBP2

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Inheritance

De novo

De novo

De novo

De novo

De novo

De novo

De novo

Developmental anomalies

ID, language difficulty

Global DD, ADHD

Mild ID

ID

ID

DD

DD

Growth impairment

Short stature

Short stature, failure to thrive

Dysmorphic facial features

Long face, broad nose, prominent ears, low-set ears, downslanting PF, strabismus, high palate

Bilateral epicanthal folds, depressed nasal bridge, slightly bulbous and anteverted nose, short philtrum

Microcephaly, long and narrow face, hypotelorism, enophthalmos, wide nasal root, long philtrum, low-set ears, fine hair

High palate, micrognathia, epicanthal folds

Anteverted nares, depressed nasal bridge, epicanthus, short philtrum

Other significant developmental or morphological phenotypes

Malar flattening

Hand and foot anomalies

PIP joint flexion, camptodactyly involving 3rd and 4th fingers, inflexible DIP joints of index fingers, adducted thumbs, dislocated radial heads

Flection contracture involving digits, hands, and elbows, ulnar deviation of both hands, valgus position of both ankles, short nails

Flection contracture involving 4th and 5th fingers (right hand), ulnar deviation of both hands, hyperlaxity of joints, hypoplastic abnormal nails

Distal flection contracture, small nail, talipes equinovarus

Short nail, ulnar deviation of the hand, flexion contracture

Skeletal anomalies

Severe kyphosis, mild scoliosis

Short metacarpal and proximal phalangeal bones

Conical shaped distal phalanges, extremely long thorax, short lower limbs

Short phalanx of finger

Distal arthrogryposis

Other

Heart defect, bilateral inguinal hernias, hypodontia, persistent teeth

Umbilical hernia, pectus excavatum, subluxation at MCPIII,

Congenital heart defect, cryptorchidism, hyperelastic skin, abnormal palmar and plantar creases

Single transverse palmar crease

Umbilical hernia, pectus excavatum recurrent infections