Karyotype 45, X

Description

A disease affecting females, caused by absence of one of the two X chromosomes. This disease may present with short stature, extra folds of skin on the neck, a low hairline at the back of the neck, puffiness or swelling of the hands and feet, skeletal abnormalities, ovarian hypofunction or premature ovarian failure, kidney problems, or heart defects. Confirmation is through observation of only one X chromosome by karyotyping.

Index terms

Karyotype 45, X

Exclusions from above levels

LD2F.15 – Noonan syndrome
http://id.who.int/icd/entity/733825440 – Inborn errors of metabolism

Sibling codes

LD50.01 – Karyotype 46, X iso Xq
LD50.02 – Karyotype 46, X with abnormal sex chromosome, except iso Xq
LD50.03 – Mosaicism, 45, X, 46, XX or XY
LD50.04 – Mosaicism, 45, X or other cell line with abnormal sex chromosome

Foundation entity

Karyotype 45, X – http://id.who.int/icd/entity/95979116

Part of: LD50.0: Turner syndrome › LD50: Number anomalies of chromosome X › 20: Developmental anomalies