Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0026827 (
hypotonia
)
5,860
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
The
partial trisomy 2q
phenotype has been well described in the literature, primarily through cases of unbalanced translocations. While these reports contributed to the initial delineation of the phenotype, reports of de novo duplications are valuable in that they exist in the absence of an accompanying monosomy. We describe a 16-month-old female with a de novo duplication of 2q from bands q33.1 to q35. The clinical findings of this patient include a congenital heart defect, dysmorphic facial features,
hypotonia
, feeding difficulties, and developmental delay. In contrast to most reported individuals with
trisomy 2q
, this patient demonstrates only mild developmental delays. We compare our findings with other case reports of
partial trisomy 2q
.
...
PMID:Partial trisomy 2q: report of a patient with dup (2)(q33.1q35). 1569 Mar 98
