Chromosomal abnormalities

Autosomal trisomies:

Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 9, Warkany syndrome 2

Autosomal monosomies/deletions:

Wolf-Hirschhorn syndrome, Cri du chat, Angelman syndrome/ Prader-Willi Syndrome

X/Y linked:

Turner syndrome, Triple X syndrome, Klinefelter's syndrome, XYY syndrome

Translocations:

Philadelphia chromosome, Burkitt's lymphoma This box: view • talk • edit

Q90-Q99 - Chromosomal abnormalities, not elsewhere classified

• (Q90) Down's syndrome
  • (Q900) Trisomy 21, meiotic nondisjunction
  • (Q901) Trisomy 21, mosaicism (mitotic nondisjunction)
  • (Q902) Trisomy 21, translocation
  • (Q909) Down's syndrome, unspecified

• (Q91) Trisomy 18 and Trisomy 13
  • (Q910) Trisomy 18, meiotic nondisjunction
  • (Q911) Trisomy 18, mosaicism (mitotic nondisjunction)
  • (Q912) Trisomy 18, translocation
  • (Q913) Edwards' syndrome, unspecified
  • (Q914) Trisomy 13, meiotic nondisjunction
  • (Q915) Trisomy 13, mosaicism (mitotic nondisjunction)
  • (Q916) Trisomy 13, translocation
  • (Q917) Patau's syndrome, unspecified

• (Q92) Other trisomies and partial trisomies of the autosomes, not elsewhere classified
  • Trisomy 9
  • Warkany syndrome 2
  • (Q920) Whole chromosome trisomy, meiotic nondisjunction
  • (Q921) Whole chromosome trisomy, mosaicism (mitotic nondisjunction)
  • (Q922) Major partial trisomy
  • (Q923) Minor partial trisomy
  • (Q924) Duplications seen only at prometaphase
  • (Q925) Duplications with other complex rearrangements
  • (Q926) Extra marker chromosomes
  • (Q927) Triploidy and polyploidy
  • (Q928) 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, meiotic nondisjunction
  • (Q931) Whole chromosome monosomy, mosaicism (mitotic nondisjunction)
  • (Q932) Chromosome replaced with ring or dicentric
  • (Q933) Deletion of short arm of chromosome 4
    • Wolff-Hirschorn syndrome
  • (Q934) Deletion of short arm of chromosome 5
    • Cri-du-chat syndrome
  • (Q935) Other deletions of part of a chromosome
    • Angelman syndrome
  • (Q936) Deletion seen only at prometaphase
  • (Q937) Deletions with other complex rearrangements
  • (Q938) Other deletions from the autosomes
  • (Q939) Deletion from autosomes, unspecified

• (Q95) Balanced rearrangements and structural markers, not elsewhere classified
  • Robertsonian and balanced reciprocal translocations and insertions
  • (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
  • (Q954) Individuals with marker heterochromatin
  • (Q955) Individuals with autosomal fragile site
  • (Q958) Other balanced rearrangements and structural markers
  • (Q959) Balanced rearrangement and structural marker, unspecified

• (Q96) Turner 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
  • (Q973) Female with 46,XY karyotype
  • (Q978) Other specified sex chromosome abnormalities, female phenotype
  • (Q979) Sex chromosome abnormality, female phenotype, unspecified

• (Q98) Other sex chromosome abnormalities, male phenotype, not elsewhere classified
  • (Q980) Klinefelter's syndrome karyotype 47,XXY
  • (Q981) Klinefelter's syndrome, male with more than two X chromosomes
  • (Q982) Klinefelter's syndrome, male with 46,XX karyotype
  • (Q983) Other male with 46,XX karyotype
  • (Q984) Klinefelter's syndrome, unspecified
  • (Q985) Karyotype 47,XYY
  • (Q986) Male with structurally abnormal sex chromosome
  • (Q987) Male with sex chromosome mosaicism
  • (Q988) Other specified sex chromosome abnormalities, male phenotype
  • (Q989) Sex chromosome abnormality, male phenotype, unspecified

• (Q99) Other chromosome abnormalities, not elsewhere classified
  • (Q990) Chimera 46,XX/46,XY
  • (Q991) 46,XX true hermaphrodite
  • (Q992) Fragile X chromosome
    • Fragile X syndrome
  • (Q998) Other specified chromosome abnormalities
  • (Q999) Chromosomal abnormality, unspecified

Chromosomal abnormalities

Autosomal trisomies:

Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 9, Warkany syndrome 2

Autosomal monosomies/deletions:

Wolf-Hirschhorn syndrome, Cri du chat, Angelman syndrome/ Prader-Willi Syndrome

X/Y linked:

Turner syndrome, Triple X syndrome, Klinefelter's syndrome, XYY syndrome

Translocations:

Philadelphia chromosome, Burkitt's lymphoma This box: view • talk • edit

See also

• List of ICD-10 codes
• International Statistical Classification of Diseases and Related Health Problems
• List of ICD-9 codes 740-759: Congenital anomalies
• Congenital disorder

th:ICD-10 บท Q: รูปวิปริตแต่กำเนิด การแปลงรูปและโครโมโซมผิดปกติ]]

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