Phenopackets - KaryotypicSex

The karyotypic sex is a widely used concept in medical genetics, referring to the composition of the sex chromosomes in the germline of an individual, irrespective of their phenotypic sex or gender.

{S}[B] Contributors

Schema Overview1

title: KaryotypicSex
description: >-
  The chromosomal sex of an individual represented from a selection
  of options.
$comments: Compares to https://github.com/phenopackets/phenopacket-schema/blob/master/docs/karyotypicsex.rst
type: string
enum:
  - UNKNOWN_KARYOTYPE
  - XX
  - XY
  - XO
  - XXY
  - XXX
  - XXYY
  - XXXY
  - XXXX
  - XYY
  - OTHER_KARYOTYPE
default: UNKNOWN_KARYOTYPE

The values correspond to the ordinal values in the Phenopackets schema where:

  • 0 - UNKNOWN_KARYOTYPE (Untyped or inconclusive karyotyping)
  • 1 - XX (Female)
  • 2 - XY (Male)
  • 3 - XO (Single X chromosome only)
  • 4 - XXY (Two X and one Y chromosome)
  • 5 - XXX (Three X chromosomes)
  • 6 - XXYY (Two X chromosomes and two Y chromosomes)
  • 7 - XXXY (Three X chromosomes and one Y chromosome)
  • 8 - XXXX (Four X chromosomes)
  • 9 - XYY (One X and two Y chromosomes)
  • 10 - OTHER_KARYOTYPE (None of the above types)

  1. Please note that the schema here is provided for illustration purposes, may represent an approximation and possibly excludes technical components of a proper JSON Schema format.