Karyotype 46, X iso Xq

Description

A disease affecting females, caused by one of the two X chromosomes consisting of two q arms, which are structurally identical and contain the same genes. 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. This disease may be differentiated from classical Turner Syndrome by a near complete lack of gonadal development, resulting in a lack of menstruation or breast development. Confirmation is through observation of an iso Xq chromosome by karyotyping.

Index terms

Karyotype 46, X iso Xq

Exclusions from above levels

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

Sibling codes

LD50.00 – Karyotype 45, X
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 46, X iso Xq – http://id.who.int/icd/entity/1626557438

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