| Q916 | Trisomy 13, translocation |
| Q917 | Trisomy 13, unspecified |
| Q92 | Other trisomies and partial trisomies of the autosomes, not elsewhere classified |
| Q920 | Whole chromosome trisomy, nonmosaic (meiotic nondisjunction) Whole chromosome trisomy, nonmosaicism (meiotic nondisjunction) |
| Q921 | Whole chromosome trisomy, mosaicism (mitotic nondisjunction) Whole chromosome trisomy, mosaicism (mitotic nondisjunction) |
| Q922 | Partial trisomy |
| Q925 | Duplications with other complex rearrangements |
| Q926 | Marker chromosomes |
| Q9261 | Marker chromosomes in normal individual |
| Q9262 | Marker chromosomes in abnormal individual |
| Q927 | Triploidy and polyploidy |
| Q928 | Other specified trisomies and partial trisomies of autosomes Other specified trisomies and partial trisomies of autosomes |
| Q929 | Trisomy and partial trisomy of autosomes, unspecified |
| Q93 | Monosomies and deletions from the autosomes, not elsewhere classified |
| Q930 | Whole chromosome monosomy,nonmosaic (meiotic nondisjunction) Whole chromosome monosomy, nonmosaicism (meiotic nondisjunction) |
| Q931 | Whole chromosome monosomy, mosaicism (mitotic nondisjunction) |
| Q932 | Chromosome replaced with ring, dicentric or isochromosome |
| Q933 | Deletion of short arm of chromosome 4 |
| Q934 | Deletion of short arm of chromosome 5 |
| Q935 | Other deletions of part of a chromosome |
| Q9351 | Angelman syndrome |
| Q9352 | Phelan-McDermid syndrome |
| Q9359 | Other deletions of part of a chromosome |
| Q937 | Deletions with other complex rearrangements |
| Q938 | Other deletions from the autosomes |
| Q9381 | Velo-cardio-facial syndrome |
| Q9382 | Williams syndrome |
| Q9388 | Other microdeletions |
| Q9389 | Other deletions from the autosomes |
| Q939 | Deletion from autosomes, unspecified |
| Q95 | Balanced rearrangements and structural markers, not elsewhere classified |
| Q950 | Balanced translocation and insertion in normal individual |
| Q951 | Chromosome inversion in normal individual |
| Q952 | Balanced autosomal rearrangement in abnormal individual |
| Q953 | Balanced sex/autosomal rearrangement in abnormal individual |
| Q955 | Individual with autosomal fragile site |
| Q958 | Other balanced rearrangements and structural markers |
| Q959 | Balanced rearrangement and structural marker, unspecified |
| Q96 | Turner's syndrome |
| Q960 | Karyotype 45, X |
| Q961 | Karyotype 46, X iso (Xq) |
| Q962 | Karyotype 46, X with abnormal sex chromosome, except iso (Xq) |
| Q963 | Mosaicism, 45, X/46, XX or XY |
| Q964 | Mosaicism, 45, X/other cell line(s) with abnormal sex chromosome |
| Q968 | Other variants of Turner's syndrome |
| Q969 | Turner's syndrome, unspecified |
| Q97 | Other sex chromosome abnormalities, female phenotype, not elsewhere classified |
| Q970 | Karyotype 47, XXX |
| Q971 | Female with more than three X chromosomes |
| Q972 | Mosaicism, lines with various numbers of X chromosomes |