46, XY, del (12) (q 24.31-q24.33), mosaic |
Al-Zahrani et al.(3)
|
8 years old, severe growth retardation with very low IGF-1 level, developmental retardation, dysmorphic face, low-set ears, cryptorchidism with short penis and elbow deformity |
46, XY, 12q subtelomeric deletion; 1.6Mb; 14 genes |
Niyazov et al.(4)
|
8 years old, delayed language development, food seeking behavior, attention deficit-hyperactivity disorder, high pain threshold, no facial dysmorphia, additional anterior second hair-whorl, brachydactyly, clinodactyly and obesity |
46, XY, 12q subtelomeric deletion; 4.5Mb; 22 genes |
|
12 years old, left cryptorchidism, renal abnormalities (multi-cystic left kidney, ectopic right kidney), epicanthal folds, small ears, delayed milestones, moderately ID, food seeking behavior and self-inflicting behavior |
46, XY, del (12) (q24.31q24.32) |
Plotner et al.(5)
|
9-months old, tracheomalacia, ambiguous genitalia; Dandy-Walker syndrome, coarse face, large anterior fontanella, short palpebral fissure, ptosis of the left eye, thick gums, large tongue, mild generalized hypotonia, bifid scrotum, bilaterally palpable testes, small penis, long fingers with patulous finger tips and developmental delay (at 9 months could not sit unsupported, nor crawled, nor babbled or cooed) |
46, XY, del (12) (q24.31q24.33) |
Sathya et al.(6)
|
12-months old, developmental delay (developmental level 10-12 months at 20 months of age), no genital abnormalities, microcephaly, large pubic fat pad, sacral pit, tapering fingers, clinodactyly, pes planovalgus, cardiac abnormalities (perimembranous VSD, mild tricuspid regurgitation, secundum ASD, mild biventricular and left atrial dilatation, mild tricuspid regurgitation), facial dysmorphia with large bulbous nose, smooth filtrum and large ears |
46, XX, del (12) (q24.31) |
Baple et al.(7)
|
13 years old, macroglossia, overgrowth, hyperinsulinism, developmental delay (walked at 18 months and was able to use a few words at 2 years), marked anxiety, autistic spectrum disorder, moderately to severely retarded, palpebral fissures, a broad nasal base, full cheeks, a highly arched palate, overcrowded teeth, full and everted lower lip, and large but narrow ears with a thick helix, inverted nipples, a single small truncal café-au-lait spot, large hands and feet, mild tapering of the fingers, and short toes, left 4th finger was proximally implanted, and shortening of the 4th metacarpal bone |
46, XX, del (12) (q24.31) |
Chouery et al.(8)
|
2 years old, global developmental delay (at 18 months of age, she was unable to sit without support, and she did not crawl, babble, her social interaction skills were lacking, and she rarely smiled in response, walking a few steps with support), infantile spasms, hypotonia, microcephaly, flat face, full cheeks, macroglossia, highly arched palate, retrognathia, narrow ear orifices, and café-au-lait spots, hypsarrhythmia |
46, XX, del (12) (q24.31) |
Qiao et al.(9)
|
8 years old, simplex ASD, global developmental delay, moderate ID, up-slanting palpebral fissures, synophrys, small, low-set and posteriorly rotated ears, high nasal root with thick alae nasi and a square tip, prominent front incisors and a narrow palate, very tapered fingers with prominent fingertip pads, bilateral hypoplastic nails on both halluces, patchy eczema and thick ichthyotic skin and diagnosed with a T-cell skin lymphoma (a hyperpigmented patch on her lower back) |
46, XX, del (12) (q24.31) |
Palumbo et al.(10)
|
12 years old, ID, seizures, stereotypies, macroglossia, full cheeks, persistent open foramen ovale, hypoglycemia episodes, spastic quadriplegia since the first months of life, global delay (starting to walk at 2.5 years and to speak at 4 years), hypoplastic nails with proximal implantation of the 4th metacarpal bone. Facial dysmorphic signs included long oval face, with downslanted palpebral fissures, and a broad nasal base with high nasal root, high palate with overcrowded teeth, full and everted lower lip vermilion, large and narrow ears with thick helix. A brain magnetic resonance imaging showed an ectasia of the ventricles |
46, XY, del (12) (q24.31-q24.33) 9Mb |
Present patient |
12 years old, developmental retardation, unable to walk independently or speak, failure to thrive, large anterior fontanelle, coarse face with short nose with anteverted nares and smooth philtrum, high narrow palate with thick gums, fifth-finger clinodactyly on left hand, self-aggressive behavior, spastic hypertonus and brisk tendon reflexes |