Preferred Label : Xq28 duplication;
ICD-11 definition : Distal Xq duplications refer to chromosomal disorders resulting from involvement of
the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending
on the gender of the patient and on the gene content of the duplicated segment. The
most frequently reported distal duplications involve the Xq28 segment and yield a
recognizable phenotype including distinctive facial features (premature closure of
the fontanels or a ridged metopic suture, a broad face with full cheeks, epicanthal
folds, large ears, a small and open mouth, ear anomalies, a pointed nose, an abnormal
palate and facial hypotonia), major axial hypotonia, severe developmental delay, severe
feeding difficulties, abnormal genitalia and susceptibility to infections.;
ICD-11 synonym : Telomeric duplication Xq; Distal duplication Xq; Xq28 duplication syndrome;
Origin ID : 1019622413;
UMLS CUI : C4304345;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
Distal Xq duplications refer to chromosomal disorders resulting from involvement of
the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending
on the gender of the patient and on the gene content of the duplicated segment. The
most frequently reported distal duplications involve the Xq28 segment and yield a
recognizable phenotype including distinctive facial features (premature closure of
the fontanels or a ridged metopic suture, a broad face with full cheeks, epicanthal
folds, large ears, a small and open mouth, ear anomalies, a pointed nose, an abnormal
palate and facial hypotonia), major axial hypotonia, severe developmental delay, severe
feeding difficulties, abnormal genitalia and susceptibility to infections.
