| Symbol
| DELXPF
|
| Location
| Xp22.33
|
| Name
|
chromosome Xp distal deletion in females |
| Other name(s)
|
monosomy Xpter |
| Corresponding gene
|
SHOX
|
| Other symbol(s)
| Xp-
|
| Main clinical features
|
short stature
normal gonadal function and fertility can be retained even with the loss of two-third of Xp
lymphedema features are usually much milder than in 45,X patients |
| Genetic determination
| chromosomal |
| Related entries
| TS, DELXPM
|
| Function/system disorder
| multisystem/generalized |
| Type
| malformation
|
| Gene mutation | Chromosome rearrangement | Effect | Comments |
|
|---|
|
| deletion
|
| cytogenetically visible deletions of Xp, usually terminal ; variable size ; de novo or maternally inherited
| |
| translocation
|
| (X;Y)translocations with the distal short arm of the X replaced by the distal long arm of the Y or (X;autosome) translocations
| |
| mosaicism
|
| some cases are mosaic for a 45,X cell line
| |
| Remark(s)
|
de novo deletions are more often of paternal origin
for the smaller deletions, the sructurally abnormal X may be active in a variable number of cells |
| Genotype/Phenotype correlations
|
Short stature is not observed in patients with interstitial deletions not including SHOX |