Q00–Q99: Congenital Malformations, Deformations and Chromosomal Abnormalities

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