Chromosomal abnormalities, not elsewhere classified (Q90-Q99)

Down syndrome

Trisomy 21, nonmosaicism (meiotic nondisjunction)

Trisomy 21, mosaicism (mitotic nondisjunction)

Trisomy 21, translocation

Down syndrome, unspecified

Trisomy 18 and Trisomy 13

Trisomy 18, nonmosaicism (meiotic nondisjunction)

Trisomy 18, mosaicism (mitotic nondisjunction)

Trisomy 18, translocation

Trisomy 18, unspecified

Trisomy 13, nonmosaicism (meiotic nondisjunction)

Trisomy 13, mosaicism (mitotic nondisjunction)

Trisomy 13, translocation

Trisomy 13, unspecified

Other trisomies and partial trisomies of the autosomes, not elsewhere classified

Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction)

Whole chromosome trisomy, mosaicism (mitotic nondisjunction)

Partial trisomy

Duplications with other complex rearrangements

Marker chromosomes

Marker chromosomes in normal individual

Marker chromosomes in abnormal individual

Triploidy and polyploidy

Other specified trisomies and partial trisomies of autosomes

Trisomy and partial trisomy of autosomes, unspecified

Monosomies and deletions from the autosomes, not elsewhere classified

Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction)

Whole chromosome monosomy, mosaicism (mitotic nondisjunction)

Chromosome replaced with ring, dicentric or isochromosome

Deletion of short arm of chromosome 4

Deletion of short arm of chromosome 5

Other deletions of part of a chromosome

Angelman syndrome

Phelan-McDermid syndrome

Other deletions of part of a chromosome

Deletions with other complex rearrangements

Other deletions from the autosomes

Velo-cardio-facial syndrome

Williams syndrome

Other microdeletions

Other deletions from the autosomes

Deletion from autosomes, unspecified

Balanced rearrangements and structural markers, not elsewhere classified

Balanced translocation and insertion in normal individual

Chromosome inversion in normal individual

Balanced autosomal rearrangement in abnormal individual

Balanced sex/autosomal rearrangement in abnormal individual

Individual with autosomal fragile site

Other balanced rearrangements and structural markers

Balanced rearrangement and structural marker, unspecified

Turner's syndrome

Karyotype 45, X

Karyotype 46, X iso (Xq)

Karyotype 46, X with abnormal sex chromosome, except iso (Xq)

Mosaicism, 45, X/46, XX or XY

Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome

Other variants of Turner's syndrome

Turner's syndrome, unspecified

Other sex chromosome abnormalities, female phenotype, not elsewhere classified

Karyotype 47, XXX

Female with more than three X chromosomes

Mosaicism, lines with various numbers of X chromosomes

Female with 46, XY karyotype

Other specified sex chromosome abnormalities, female phenotype

Sex chromosome abnormality, female phenotype, unspecified

Other sex chromosome abnormalities, male phenotype, not elsewhere classified

Klinefelter syndrome karyotype 47, XXY

Klinefelter syndrome, male with more than two X chromosomes

Other male with 46, XX karyotype

Klinefelter syndrome, unspecified

Karyotype 47, XYY

Male with structurally abnormal sex chromosome

Male with sex chromosome mosaicism

Other specified sex chromosome abnormalities, male phenotype

Sex chromosome abnormality, male phenotype, unspecified

Other chromosome abnormalities, not elsewhere classified

Chimera 46, XX/46, XY

46, XX true hermaphrodite

Fragile X chromosome

Other specified chromosome abnormalities

Chromosomal abnormality, unspecified