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Condition report · Sexual Health

Klinefelter, Turner and Sex Chromosome Aneuploidies

Conditions caused by an extra or missing X or Y chromosome, such as Klinefelter and Turner syndromes. Many people are never diagnosed, and some first learn of it through infertility.

A condition report looks for rare variants known to cause the conditions it covers.

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The 5 conditions we analyse

Klinefelter syndrome (47,XXY)

About 1 in 500 to 1,000 males.

An extra X chromosome in males that can cause small testes, low testosterone, infertility and tall stature.

What a diagnosis changes

Testosterone treatment and fertility options such as sperm retrieval are available.

Also known as

47,XXY syndrome; Klinefelter's syndrome; Klinefelter's syndrome, XXY; XXY syndrome; XXY syndrome (Klinefelter syndrome)

MONDO:0006823MedGen 44033

47,XYY syndrome

An extra Y chromosome in males, often with tall stature and sometimes learning or developmental differences.

Also known as

47,XYY; disomy Y; Double Y; Double Y syndrome; XYY karyotype; XYY Syndrome; YY syndrome

MONDO:0019339Orphanet 8MedGen 473794

48,XXYY syndrome

Two extra sex chromosomes in males, with features of Klinefelter syndrome and more frequent developmental and behavioural difficulties.

Also known as

48,XXYY Klinefelter syndrome; 48,XXYY variant of Klinefelter's syndrome; XXYY syndrome

MONDO:0015028Orphanet 10MedGen 422434

Trisomy X (47,XXX)

An extra X chromosome in females, often with tall stature and sometimes learning difficulties or early ovarian insufficiency.

Also known as

47 XXX syndrome; 47,XXX; triple X syndrome; triple-X chromosome syndrome; triple-X female; Triplo X syndrome; trisomy type X; XXX syndrome

MONDO:0018066Orphanet 3375MedGen 113140

Turner syndrome

A missing or structurally altered X chromosome in females that causes short stature, ovarian insufficiency and heart and kidney anomalies.

What a diagnosis changes

Diagnosis allows growth hormone and oestrogen treatment and heart and kidney monitoring.

Also known as

45, X syndrome; 45,X gonadal dysgenesis; 45,X/46,XX syndrome; 45,X0 syndrome; 45X syndrome; chromosome X monosomy X; genital dwarfism; genital dwarfism, Turner type; gonadal dysgenesis; gonadal dysgenesis Turner type; karyotype 45, X; monosomy X; Schereshevkii Turner syndrome; Turner Varny syndrome; Ullrich-Turner syndrome

Includes 4 related subtypes ↓
  • mixed gonadal dysgenesis
  • monosomy X
  • mosaic monosomy X
  • Turner syndrome due to structural X chromosome anomalies
MONDO:0019499Orphanet 881MedGen 21734

Limitations

  • These are chromosomal conditions detected from read depth across the X and Y chromosomes rather than from variant calls. Mosaicism (for example 46,XY/47,XXY or 45,X/46,XX) may be missed or under-estimated, and a karyotype is needed to confirm a result.

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