Table 1 Summary of the most important phenotypic aspects of the discussed chromosomal abnormalities
DS | KS | i(X)(q10) KS | Predicted phenotype | Patient’s signs |
|---|---|---|---|---|
Prenatal signs | ||||
↑↑: increased maternal serum marker levels (PAPP-A, uE3, total & free β-hCG); ultrasound signs (hypoplastic nasal bone, >3mm nuchal translucency, abnormal ductus venosus flow, oligo-/polyhydramnios, 5th finger brachymesophalangy, ventriculomegaly, short femur & humerus) | [SGA: increases with number of extra X chromosomes] | [− SGA] | ↑↑: increased maternal serum marker levels (PAPP-A, uE3, total & free β-hCG); ultrasound signs (hypoplastic nasal bone, >3mm nuchal translucency, abnormal ductus venosus flow, oligo-/polyhydramnios, 5th finger brachymesophalangy, ventriculomegaly, short femur & humerus) [SGA] | no signs |
Nervous sys. | ||||
↑↑: ID/DD; epilepsy | ↑: moderate ID: increases with number of extra X chromosomes; mild language problems; deficits in executive functions; smaller total brain/gray & white matter volume | [mild language problems?; deficits in executive functions?; smaller total brain/gray & white matter volume?] | ↑↑: ID/DD; epilepsy; mild language problems?; deficits in executive functions?; smaller total brain/gray & white matter volume? | no signs |
Mental & socioeconomic status | ||||
↑↑: autism spectrum disorder; good mood; Alzheimer’s disease; poorer mental & physical quality of life | ↑↑: anxiety; depression; behavioral disorders; poorer mental & physical quality of life | ↑↑: anxiety; depression; behavioral disorders; poorer mental & physical quality of life | ↑↑↑↑: autism spectrum disorder; Alzheimer’s disease; anxiety, emotional & behavioral disorders; poorer mental & physical quality of life | no signs |
Musculosceletal & connective tissue sys. | ||||
↑↑: connective tissue weakness (rectus diasthasis, inguinal/umbilical hernia); joint hypermobility; muscle hypotonia | ↑↑: low muscle mass/strength/tone; early & more pronounced osteopenia/-porosis | ↑↑: low muscle mass/strength/tone; early & more pronounced osteopenia/-porosis | ↑↑↑: connective tissue weakness (rectus diasthasis, inguinal/umbilical hernia); joint hypermobility; muscle hypotonia, low muscle mass/strength/tone; early & more pronounced osteopenia/-porosis | rectus diasthasis, umbilical hernia, muscle hypotonia |
Hearing impairment | ||||
↑↑: sensorineural/ conductive (frequent middle ear inflammation) | [not typical] | [not typical] | ↑↑: sensorineural/ conductive (frequent middle ear inflammation) | no signs |
Ophthalmic anomalies | ||||
↑↑: Brushfield’s macules, cataract, glaucoma, keratoconus, strabismus, refractive errors | [not typical] | [not typical] | ↑↑: Brushfield’s macules, cataract, glaucoma, keratoconus, strabismus, refractive errors | no signs |
Cardiovascular sys. | ||||
↑↑: AVSD; VSD; Fallot tetralogy; mitral valve problems | ↑: hypertension; higher risk for DVT & PE; short QTc | ↑: hypertension; higher risk for DVT & PE | ↑↑↑: AVSD; VSD; Fallot tetralogy; mitral valve problems ↑: hypertension; higher risk for DVT & PE | no signs |
Immune sys. | ||||
↑↑: increased suscept. to infections | ↑↑: increased suscept. to autoimmune diseases (SM, RA, Hashimoto’s disease, Sjögren’s syndrome, SLE, T1DM) | ↑↑↑: increased suscept. to autoimmune diseases (SM, RA, Hashimoto’s disease, Sjögren’s syndrome, SLE,T1DM) | ↑↑↑↑: increased suscept. to infections & autoimmune diseases | no signs |
Endocrine sys. | ||||
↑↑: congenital primary hypothyroidism; T1DM/T2DM | ↑↑: hypergonadotropic hypogonadism; metabolic syndrome (T2DM, hypertension, dyslipidemia) | ↑↑: hypergonadotropic hypogonadism; metabolic syndrome | ↑↑: congenital primary hypothyroidism; T1DM/T2DM; hypergonadotropic hypogonadism; metabolic syndrome | no signs |
Gastrointestinal sys. | ||||
↑↑: constipation, decreased appetite, Hirschprung’s disease, pyloric stenosis, duodenal atresia, Meckel’s diverticulum, anal atresia, celiac disease, gastroesophageal reflux disease | [not typical] | [not typical] | ↑↑: decreased appetite, constipation, Hirschprung’s disease, pyloric stenosis, duodenal atresia, Meckel’s diverticulum, anal atresia, celiac disease, gastroesophageal reflux disease | moderate appetite |
Oropharyngeal abnormalities | ||||
↑: necrotizing ulcerative gingivitis, periodontitis, early tooth loss, malocclusion, late teething, small teeth, dental enamel hypocalcification, cheilognathopalatoschisis | [not typical] | [not typical] | ↑: necrotizing ulcerative gingivitis, periodontitis, early tooth loss, malocclusion, late teething, small teeth, dental enamel hypocalcification, cheilognathopalatoschisis | no signs |
Fertility & sexual problems | ||||
↑↑: decreased fertility/infertility (in male: oligo/azoospermia & in female: early menopause, decreased sexual activity) | ↑↑: decreased fertility/infertility (oligo-/azoospermia, decreased sexual activity) | ↑↑: decreased fertility/infertility (oligo-/azoospermia, decreased sexual activity) | ↑↑↑↑: decreased fertility/infertility (oligo-/azoospermia, decreased sexual activity) | no signs |
Tumor predisposition | ||||
↑↑: increased risk for: testicular germ cell tumors, ALL, AML, AMKL | ↑: risk for: extragonadal germ cell tumors & breast cancer | ↑: risk for: extragonadal germ cell tumors & breast cancer | ↑↑↑↑: increased risk for: extragonadal germ cell & testicular tumors, ALL, ML-DS | no signs |
↓: risk for certain solid tumors: breast, lung, prostate | ↓: risk for lung & prostate cancer | no signs | ||