Human Chromosome Atlas

Behrend, Claudia; Hagh, Javad Karimzad; Mehdipour, Parvin; Schwanitz, Gesa

doi:10.1007/978-3-319-54099-3

Search citation statements

Order By: Relevance

Paper Sections

Select...

Discussion1

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2023

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Chromosomal duplications result from replication errors within one chromatid, through an unequal crossing over between sister chromatids or by translocation between homologous chromosomes. 6 The term partial trisomy is sometimes used, especially for larger classical duplications. It can be present as an isolated duplication, uncomplicated by other rearrangements, or in combination with a deletion or other events (isochromosomes, dicentrics, derivatives, recombinants, rings, and markers).…”

Section: Discussionmentioning

confidence: 99%

A de novo chromosome 9p duplication in a female child with short stature and developmental delay

Tkemaladze

Bregvadze

Papiashvili

et al. 2023

SAGE Open Medical Case Reports

View full text Add to dashboard Cite

Chromosome 9p duplication, also known as a partial trisomy 9p, is a rare chromosome abnormality due to a duplication of the partial short arm of chromosome 9. More than 200 cases are reported in the literature. Major clinical findings include short stature, developmental delay, intellectual disability, and characteristic facial dysmorphic features. The most common origin of this syndrome is malsegregation of a parental reciprocal translocation. Only about 25 cases are reported as de novo in the literature, the rest being inherited from asymptomatic balanced carrier parents. We report an additional new case of de novo partial trisomy 9p in an 8-year-old girl, and describe her clinical manifestations and diagnostic testing results.

show abstract

Section: Discussionmentioning

confidence: 99%