Table 2.

Medical and physical features of SCA conditions

	47,XXY	48,XXYY	47,XYY	47,XXX	48,XXXX
		48,XXXY			49,XXXXX
		49,XXXXY
Strongly associated with:
Endocrinologic
Hypergonadotropic hypogonadism (testosterone deficiency/microorchidism)	X	X
Infertility/fertility problems	X	X
Increased risk for:
Neurologic
Seizure disorder	X	X	X	X	X
Hypotonia	X	X	X	X	X
Coordination/motor skills disorders	X	X	X	X	X
Tremor	X	X	X	X	X
Ear, Nose and Throat
Cleft palate	X	X	X	X	X
Velopharyngeal insufficiency	X	X	X	X	X
Obstructive sleep apnea	X	X	X	X	X
Cardiopulmonary
Congenital heart malformation	X	X	X	X	X
Asthma/reactive airway disease	X	X	X	X	X
Gastrointestinal
Constipation	X	X	X	X	X
Functional abdominal pain				X	X
Eosinophilic esophagitis	X	X	X	X	X
Musculoskeletal
Flat feet/pes planus	X	X	X	X	X
Joint hypermobility	X	X	X	X	X
Radioulnar synostosis/congenital elbow dislocation	X	X	X	X	X
Congenital hip dysplasia				X	X
Clubfoot	X	X		X	X
Scoliosis	X	X	X	X	X
Endocrinologic
Hypothyroidism	X	X	X	X	X
Diabetes mellitus/type II	X	X	X	X	X
Gynecomastia	X	X
Premature ovarian failure				X	X
Ovarian/uterine malformation				X	X
Rheumatologic/autoimmune
Systemic lupus erythematosus	X	X
Rheumatoid arthritis	X	X
Hematologic/oncologic
Deep vein thromboses/blood clots	X	X
Venous ulcers/varicosities	X	X
Breast cancer	X	X
Non-Hodgkin’s lymphoma		X
Teratoma/germ cell tumor (testicular or extragonadal)	X	X
Other medical
Strabismus	X	X	X	X	X
Environmental allergies	X	X	X	X	X
Kidney aplasia/dysplasia		X		X	X
Cryptorchidism (undescended testicles)	X	X
Dental
Atypical dental development	X	X	X	X	X
Thin enamel/dental caries	X	X	X	X	X
Taurodontism	X	X	X	X	X

Note: Data from.¹⁰,¹³–¹⁵,²³–³⁸

Abbreviation: SCA, sex chromosome aneuploidy.